SNP Links for Protein (Select 1034618000) - SNP

Select item 14909336751.

rs1490933675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:11194317 (GRCh38)
2:11334443 (GRCh37)
Canonical SPDI:: NC_000002.12:11194316:G:T
Gene:: ROCK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.11194317G>T, NC_000002.11:g.11334443G>T, NG_029769.1:g.155269C>A, NM_004850.5:c.3547C>A, NM_004850.4:c.3547C>A, NM_004850.3:c.3547C>A, NM_001321643.2:c.3289C>A, NM_001321643.1:c.3289C>A, XM_005246190.4:c.3547C>A, XM_005246190.3:c.3547C>A, XM_005246190.2:c.3547C>A, XM_005246190.1:c.3547C>A, XM_011510417.3:c.3289C>A, XM_011510417.2:c.3289C>A, XM_011510417.1:c.3289C>A, XM_017005379.3:c.3289C>A, XM_017005379.2:c.3289C>A, XM_017005379.1:c.3289C>A, XM_017005378.3:c.3547C>A, XM_017005378.2:c.3547C>A, XM_017005378.1:c.3547C>A, NP_004841.2:p.Leu1183Ile, NP_001308572.1:p.Leu1097Ile, XP_005246247.1:p.Leu1183Ile, XP_011508719.1:p.Leu1097Ile, XP_016860868.1:p.Leu1097Ile, XP_016860867.1:p.Leu1183Ile

Select item 14893039952.

rs1489303995 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:11215581 (GRCh38)
2:11355707 (GRCh37)
Canonical SPDI:: NC_000002.12:11215580:T:C
Gene:: ROCK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.11215581T>C, NC_000002.11:g.11355707T>C, NG_029769.1:g.134005A>G, NM_004850.5:c.1526A>G, NM_004850.4:c.1526A>G, NM_004850.3:c.1526A>G, NM_001321643.2:c.1268A>G, NM_001321643.1:c.1268A>G, XM_005246190.4:c.1526A>G, XM_005246190.3:c.1526A>G, XM_005246190.2:c.1526A>G, XM_005246190.1:c.1526A>G, XM_011510417.3:c.1268A>G, XM_011510417.2:c.1268A>G, XM_011510417.1:c.1268A>G, XM_017005379.3:c.1268A>G, XM_017005379.2:c.1268A>G, XM_017005379.1:c.1268A>G, XM_017005378.3:c.1526A>G, XM_017005378.2:c.1526A>G, XM_017005378.1:c.1526A>G, NP_004841.2:p.Gln509Arg, NP_001308572.1:p.Gln423Arg, XP_005246247.1:p.Gln509Arg, XP_011508719.1:p.Gln423Arg, XP_016860868.1:p.Gln423Arg, XP_016860867.1:p.Gln509Arg

Select item 14892436463.

rs1489243646 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:11286578 (GRCh38)
2:11426704 (GRCh37)
Canonical SPDI:: NC_000002.12:11286577:T:C
Gene:: ROCK2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00013/3 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000002.12:g.11286578T>C, NC_000002.11:g.11426704T>C, NG_029769.1:g.63008A>G, NM_004850.5:c.285A>G, NM_004850.4:c.285A>G, NM_004850.3:c.285A>G, NM_001321643.2:c.27A>G, NM_001321643.1:c.27A>G, XM_005246190.4:c.285A>G, XM_005246190.3:c.285A>G, XM_005246190.2:c.285A>G, XM_005246190.1:c.285A>G, XM_011510417.3:c.27A>G, XM_011510417.2:c.27A>G, XM_011510417.1:c.27A>G, XM_017005379.3:c.27A>G, XM_017005379.2:c.27A>G, XM_017005379.1:c.27A>G, XM_017005378.3:c.285A>G, XM_017005378.2:c.285A>G, XM_017005378.1:c.285A>G

Select item 14888680474.

rs1488868047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:11192575 (GRCh38)
2:11332701 (GRCh37)
Canonical SPDI:: NC_000002.12:11192574:C:T
Gene:: ROCK2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.11192575C>T, NC_000002.11:g.11332701C>T, NG_029769.1:g.157011G>A, NM_004850.5:c.3825G>A, NM_004850.4:c.3825G>A, NM_004850.3:c.3825G>A, NM_001321643.2:c.3567G>A, NM_001321643.1:c.3567G>A, XM_005246190.4:c.3825G>A, XM_005246190.3:c.3825G>A, XM_005246190.2:c.3825G>A, XM_005246190.1:c.3825G>A, XM_011510417.3:c.3567G>A, XM_011510417.2:c.3567G>A, XM_011510417.1:c.3567G>A, XM_017005379.3:c.3567G>A, XM_017005379.2:c.3567G>A, XM_017005379.1:c.3567G>A, XM_017005378.3:c.3825G>A, XM_017005378.2:c.3825G>A, XM_017005378.1:c.3825G>A

Select item 14880922495.

rs1488092249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:11207852 (GRCh38)
2:11347978 (GRCh37)
Canonical SPDI:: NC_000002.12:11207851:T:C
Gene:: ROCK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.11207852T>C, NC_000002.11:g.11347978T>C, NG_029769.1:g.141734A>G, NM_004850.5:c.2423A>G, NM_004850.4:c.2423A>G, NM_004850.3:c.2423A>G, NM_001321643.2:c.2165A>G, NM_001321643.1:c.2165A>G, XM_005246190.4:c.2423A>G, XM_005246190.3:c.2423A>G, XM_005246190.2:c.2423A>G, XM_005246190.1:c.2423A>G, XM_011510417.3:c.2165A>G, XM_011510417.2:c.2165A>G, XM_011510417.1:c.2165A>G, XM_017005379.3:c.2165A>G, XM_017005379.2:c.2165A>G, XM_017005379.1:c.2165A>G, XM_017005378.3:c.2423A>G, XM_017005378.2:c.2423A>G, XM_017005378.1:c.2423A>G, NP_004841.2:p.Asn808Ser, NP_001308572.1:p.Asn722Ser, XP_005246247.1:p.Asn808Ser, XP_011508719.1:p.Asn722Ser, XP_016860868.1:p.Asn722Ser, XP_016860867.1:p.Asn808Ser

Select item 14838716926.

rs1483871692 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:11214414 (GRCh38)
2:11354540 (GRCh37)
Canonical SPDI:: NC_000002.12:11214413:T:C
Gene:: ROCK2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/2 (GnomAD_exomes)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000002.12:g.11214414T>C, NC_000002.11:g.11354540T>C, NG_029769.1:g.135172A>G, NM_004850.5:c.1986A>G, NM_004850.4:c.1986A>G, NM_004850.3:c.1986A>G, NM_001321643.2:c.1728A>G, NM_001321643.1:c.1728A>G, XM_005246190.4:c.1986A>G, XM_005246190.3:c.1986A>G, XM_005246190.2:c.1986A>G, XM_005246190.1:c.1986A>G, XM_011510417.3:c.1728A>G, XM_011510417.2:c.1728A>G, XM_011510417.1:c.1728A>G, XM_017005379.3:c.1728A>G, XM_017005379.2:c.1728A>G, XM_017005379.1:c.1728A>G, XM_017005378.3:c.1986A>G, XM_017005378.2:c.1986A>G, XM_017005378.1:c.1986A>G

Select item 14837037337.

rs1483703733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:11192181 (GRCh38)
2:11332307 (GRCh37)
Canonical SPDI:: NC_000002.12:11192180:C:T
Gene:: ROCK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000068/3 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.11192181C>T, NC_000002.11:g.11332307C>T, NG_029769.1:g.157405G>A, NM_004850.5:c.4130G>A, NM_004850.4:c.4130G>A, NM_004850.3:c.4130G>A, NM_001321643.2:c.3872G>A, NM_001321643.1:c.3872G>A, XM_005246190.4:c.4130G>A, XM_005246190.3:c.4130G>A, XM_005246190.2:c.4130G>A, XM_005246190.1:c.4130G>A, XM_011510417.3:c.3872G>A, XM_011510417.2:c.3872G>A, XM_011510417.1:c.3872G>A, XM_017005379.3:c.3872G>A, XM_017005379.2:c.3872G>A, XM_017005379.1:c.3872G>A, XM_017005378.3:c.4130G>A, XM_017005378.2:c.4130G>A, XM_017005378.1:c.4130G>A, NP_004841.2:p.Arg1377Gln, NP_001308572.1:p.Arg1291Gln, XP_005246247.1:p.Arg1377Gln, XP_011508719.1:p.Arg1291Gln, XP_016860868.1:p.Arg1291Gln, XP_016860867.1:p.Arg1377Gln

Select item 14828756488.

rs1482875648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:11249779 (GRCh38)
2:11389905 (GRCh37)
Canonical SPDI:: NC_000002.12:11249778:T:A
Gene:: ROCK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.11249779T>A, NC_000002.11:g.11389905T>A, NG_029769.1:g.99807A>T, NM_004850.5:c.344A>T, NM_004850.4:c.344A>T, NM_004850.3:c.344A>T, NM_001321643.2:c.86A>T, NM_001321643.1:c.86A>T, XM_005246190.4:c.344A>T, XM_005246190.3:c.344A>T, XM_005246190.2:c.344A>T, XM_005246190.1:c.344A>T, XM_011510417.3:c.86A>T, XM_011510417.2:c.86A>T, XM_011510417.1:c.86A>T, XM_017005379.3:c.86A>T, XM_017005379.2:c.86A>T, XM_017005379.1:c.86A>T, XM_017005378.3:c.344A>T, XM_017005378.2:c.344A>T, XM_017005378.1:c.344A>T, NP_004841.2:p.Gln115Leu, NP_001308572.1:p.Gln29Leu, XP_005246247.1:p.Gln115Leu, XP_011508719.1:p.Gln29Leu, XP_016860868.1:p.Gln29Leu, XP_016860867.1:p.Gln115Leu

Select item 14772958659.

rs1477295865 [Homo sapiens]

Variant type:: DEL
Alleles:: TTT>- [Show Flanks]
Chromosome:: 2:11211682 (GRCh38)
2:11351808 (GRCh37)
Canonical SPDI:: NC_000002.12:11211681:TTT:
Gene:: ROCK2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.11211682_11211684del, NC_000002.11:g.11351808_11351810del, NG_029769.1:g.137902_137904del, NM_004850.5:c.2200_2202del, NM_004850.4:c.2200_2202del, NM_004850.3:c.2200_2202del, NM_001321643.2:c.1942_1944del, NM_001321643.1:c.1942_1944del, XM_005246190.4:c.2200_2202del, XM_005246190.3:c.2200_2202del, XM_005246190.2:c.2200_2202del, XM_005246190.1:c.2200_2202del, XM_011510417.3:c.1942_1944del, XM_011510417.2:c.1942_1944del, XM_011510417.1:c.1942_1944del, XM_017005379.3:c.1942_1944del, XM_017005379.2:c.1942_1944del, XM_017005379.1:c.1942_1944del, XM_017005378.3:c.2200_2202del, XM_017005378.2:c.2200_2202del, XM_017005378.1:c.2200_2202del, NP_004841.2:p.Lys734del, NP_001308572.1:p.Lys648del, XP_005246247.1:p.Lys734del, XP_011508719.1:p.Lys648del, XP_016860868.1:p.Lys648del, XP_016860867.1:p.Lys734del

Select item 147694302510.

rs1476943025 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:11207801 (GRCh38)
2:11347927 (GRCh37)
Canonical SPDI:: NC_000002.12:11207800:T:C
Gene:: ROCK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.11207801T>C, NC_000002.11:g.11347927T>C, NG_029769.1:g.141785A>G, NM_004850.5:c.2474A>G, NM_004850.4:c.2474A>G, NM_004850.3:c.2474A>G, NM_001321643.2:c.2216A>G, NM_001321643.1:c.2216A>G, XM_005246190.4:c.2474A>G, XM_005246190.3:c.2474A>G, XM_005246190.2:c.2474A>G, XM_005246190.1:c.2474A>G, XM_011510417.3:c.2216A>G, XM_011510417.2:c.2216A>G, XM_011510417.1:c.2216A>G, XM_017005379.3:c.2216A>G, XM_017005379.2:c.2216A>G, XM_017005379.1:c.2216A>G, XM_017005378.3:c.2474A>G, XM_017005378.2:c.2474A>G, XM_017005378.1:c.2474A>G, NP_004841.2:p.Lys825Arg, NP_001308572.1:p.Lys739Arg, XP_005246247.1:p.Lys825Arg, XP_011508719.1:p.Lys739Arg, XP_016860868.1:p.Lys739Arg, XP_016860867.1:p.Lys825Arg

Select item 147497513411.

rs1474975134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:11214428 (GRCh38)
2:11354554 (GRCh37)
Canonical SPDI:: NC_000002.12:11214427:C:A,NC_000002.12:11214427:C:T
Gene:: ROCK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.11214428C>A, NC_000002.12:g.11214428C>T, NC_000002.11:g.11354554C>A, NC_000002.11:g.11354554C>T, NG_029769.1:g.135158G>T, NG_029769.1:g.135158G>A, NM_004850.5:c.1972G>T, NM_004850.5:c.1972G>A, NM_004850.4:c.1972G>T, NM_004850.4:c.1972G>A, NM_004850.3:c.1972G>T, NM_004850.3:c.1972G>A, NM_001321643.2:c.1714G>T, NM_001321643.2:c.1714G>A, NM_001321643.1:c.1714G>T, NM_001321643.1:c.1714G>A, XM_005246190.4:c.1972G>T, XM_005246190.4:c.1972G>A, XM_005246190.3:c.1972G>T, XM_005246190.3:c.1972G>A, XM_005246190.2:c.1972G>T, XM_005246190.2:c.1972G>A, XM_005246190.1:c.1972G>T, XM_005246190.1:c.1972G>A, XM_011510417.3:c.1714G>T, XM_011510417.3:c.1714G>A, XM_011510417.2:c.1714G>T, XM_011510417.2:c.1714G>A, XM_011510417.1:c.1714G>T, XM_011510417.1:c.1714G>A, XM_017005379.3:c.1714G>T, XM_017005379.3:c.1714G>A, XM_017005379.2:c.1714G>T, XM_017005379.2:c.1714G>A, XM_017005379.1:c.1714G>T, XM_017005379.1:c.1714G>A, XM_017005378.3:c.1972G>T, XM_017005378.3:c.1972G>A, XM_017005378.2:c.1972G>T, XM_017005378.2:c.1972G>A, XM_017005378.1:c.1972G>T, XM_017005378.1:c.1972G>A, NP_004841.2:p.Gly658Cys, NP_004841.2:p.Gly658Ser, NP_001308572.1:p.Gly572Cys, NP_001308572.1:p.Gly572Ser, XP_005246247.1:p.Gly658Cys, XP_005246247.1:p.Gly658Ser, XP_011508719.1:p.Gly572Cys, XP_011508719.1:p.Gly572Ser, XP_016860868.1:p.Gly572Cys, XP_016860868.1:p.Gly572Ser, XP_016860867.1:p.Gly658Cys, XP_016860867.1:p.Gly658Ser

Select item 147194336012.

rs1471943360 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:11224376 (GRCh38)
2:11364502 (GRCh37)
Canonical SPDI:: NC_000002.12:11224375:T:C
Gene:: ROCK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.11224376T>C, NC_000002.11:g.11364502T>C, NG_029769.1:g.125210A>G, NM_004850.5:c.953A>G, NM_004850.4:c.953A>G, NM_004850.3:c.953A>G, NM_001321643.2:c.695A>G, NM_001321643.1:c.695A>G, XM_005246190.4:c.953A>G, XM_005246190.3:c.953A>G, XM_005246190.2:c.953A>G, XM_005246190.1:c.953A>G, XM_011510417.3:c.695A>G, XM_011510417.2:c.695A>G, XM_011510417.1:c.695A>G, XM_017005379.3:c.695A>G, XM_017005379.2:c.695A>G, XM_017005379.1:c.695A>G, XM_017005378.3:c.953A>G, XM_017005378.2:c.953A>G, XM_017005378.1:c.953A>G, NP_004841.2:p.Asp318Gly, NP_001308572.1:p.Asp232Gly, XP_005246247.1:p.Asp318Gly, XP_011508719.1:p.Asp232Gly, XP_016860868.1:p.Asp232Gly, XP_016860867.1:p.Asp318Gly

Select item 147116475313.

rs1471164753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:11218987 (GRCh38)
2:11359113 (GRCh37)
Canonical SPDI:: NC_000002.12:11218986:G:A,NC_000002.12:11218986:G:T
Gene:: ROCK2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.11218987G>A, NC_000002.12:g.11218987G>T, NC_000002.11:g.11359113G>A, NC_000002.11:g.11359113G>T, NG_029769.1:g.130599C>T, NG_029769.1:g.130599C>A, NM_004850.5:c.1299C>T, NM_004850.5:c.1299C>A, NM_004850.4:c.1299C>T, NM_004850.4:c.1299C>A, NM_004850.3:c.1299C>T, NM_004850.3:c.1299C>A, NM_001321643.2:c.1041C>T, NM_001321643.2:c.1041C>A, NM_001321643.1:c.1041C>T, NM_001321643.1:c.1041C>A, XM_005246190.4:c.1299C>T, XM_005246190.4:c.1299C>A, XM_005246190.3:c.1299C>T, XM_005246190.3:c.1299C>A, XM_005246190.2:c.1299C>T, XM_005246190.2:c.1299C>A, XM_005246190.1:c.1299C>T, XM_005246190.1:c.1299C>A, XM_011510417.3:c.1041C>T, XM_011510417.3:c.1041C>A, XM_011510417.2:c.1041C>T, XM_011510417.2:c.1041C>A, XM_011510417.1:c.1041C>T, XM_011510417.1:c.1041C>A, XM_017005379.3:c.1041C>T, XM_017005379.3:c.1041C>A, XM_017005379.2:c.1041C>T, XM_017005379.2:c.1041C>A, XM_017005379.1:c.1041C>T, XM_017005379.1:c.1041C>A, XM_017005378.3:c.1299C>T, XM_017005378.3:c.1299C>A, XM_017005378.2:c.1299C>T, XM_017005378.2:c.1299C>A, XM_017005378.1:c.1299C>T, XM_017005378.1:c.1299C>A

Select item 147054678614.

rs1470546786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:11198757 (GRCh38)
2:11338883 (GRCh37)
Canonical SPDI:: NC_000002.12:11198756:C:A,NC_000002.12:11198756:C:G
Gene:: ROCK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.11198757C>A, NC_000002.12:g.11198757C>G, NC_000002.11:g.11338883C>A, NC_000002.11:g.11338883C>G, NG_029769.1:g.150829G>T, NG_029769.1:g.150829G>C, NM_004850.5:c.2928G>T, NM_004850.5:c.2928G>C, NM_004850.4:c.2928G>T, NM_004850.4:c.2928G>C, NM_004850.3:c.2928G>T, NM_004850.3:c.2928G>C, NM_001321643.2:c.2670G>T, NM_001321643.2:c.2670G>C, NM_001321643.1:c.2670G>T, NM_001321643.1:c.2670G>C, XM_005246190.4:c.2928G>T, XM_005246190.4:c.2928G>C, XM_005246190.3:c.2928G>T, XM_005246190.3:c.2928G>C, XM_005246190.2:c.2928G>T, XM_005246190.2:c.2928G>C, XM_005246190.1:c.2928G>T, XM_005246190.1:c.2928G>C, XM_011510417.3:c.2670G>T, XM_011510417.3:c.2670G>C, XM_011510417.2:c.2670G>T, XM_011510417.2:c.2670G>C, XM_011510417.1:c.2670G>T, XM_011510417.1:c.2670G>C, XM_017005379.3:c.2670G>T, XM_017005379.3:c.2670G>C, XM_017005379.2:c.2670G>T, XM_017005379.2:c.2670G>C, XM_017005379.1:c.2670G>T, XM_017005379.1:c.2670G>C, XM_017005378.3:c.2928G>T, XM_017005378.3:c.2928G>C, XM_017005378.2:c.2928G>T, XM_017005378.2:c.2928G>C, XM_017005378.1:c.2928G>T, XM_017005378.1:c.2928G>C, NP_004841.2:p.Arg976Ser, NP_004841.2:p.Arg976Ser, NP_001308572.1:p.Arg890Ser, NP_001308572.1:p.Arg890Ser, XP_005246247.1:p.Arg976Ser, XP_005246247.1:p.Arg976Ser, XP_011508719.1:p.Arg890Ser, XP_011508719.1:p.Arg890Ser, XP_016860868.1:p.Arg890Ser, XP_016860868.1:p.Arg890Ser, XP_016860867.1:p.Arg976Ser, XP_016860867.1:p.Arg976Ser

Select item 146850834715.

rs1468508347 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:11217123 (GRCh38)
2:11357249 (GRCh37)
Canonical SPDI:: NC_000002.12:11217122:A:G
Gene:: ROCK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.11217123A>G, NC_000002.11:g.11357249A>G, NG_029769.1:g.132463T>C, NM_004850.5:c.1379T>C, NM_004850.4:c.1379T>C, NM_004850.3:c.1379T>C, NM_001321643.2:c.1121T>C, NM_001321643.1:c.1121T>C, XM_005246190.4:c.1379T>C, XM_005246190.3:c.1379T>C, XM_005246190.2:c.1379T>C, XM_005246190.1:c.1379T>C, XM_011510417.3:c.1121T>C, XM_011510417.2:c.1121T>C, XM_011510417.1:c.1121T>C, XM_017005379.3:c.1121T>C, XM_017005379.2:c.1121T>C, XM_017005379.1:c.1121T>C, XM_017005378.3:c.1379T>C, XM_017005378.2:c.1379T>C, XM_017005378.1:c.1379T>C, NP_004841.2:p.Met460Thr, NP_001308572.1:p.Met374Thr, XP_005246247.1:p.Met460Thr, XP_011508719.1:p.Met374Thr, XP_016860868.1:p.Met374Thr, XP_016860867.1:p.Met460Thr

Select item 146748760216.

rs1467487602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:11215584 (GRCh38)
2:11355710 (GRCh37)
Canonical SPDI:: NC_000002.12:11215583:A:C
Gene:: ROCK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.11215584A>C, NC_000002.11:g.11355710A>C, NG_029769.1:g.134002T>G, NM_004850.5:c.1523T>G, NM_004850.4:c.1523T>G, NM_004850.3:c.1523T>G, NM_001321643.2:c.1265T>G, NM_001321643.1:c.1265T>G, XM_005246190.4:c.1523T>G, XM_005246190.3:c.1523T>G, XM_005246190.2:c.1523T>G, XM_005246190.1:c.1523T>G, XM_011510417.3:c.1265T>G, XM_011510417.2:c.1265T>G, XM_011510417.1:c.1265T>G, XM_017005379.3:c.1265T>G, XM_017005379.2:c.1265T>G, XM_017005379.1:c.1265T>G, XM_017005378.3:c.1523T>G, XM_017005378.2:c.1523T>G, XM_017005378.1:c.1523T>G, NP_004841.2:p.Leu508Arg, NP_001308572.1:p.Leu422Arg, XP_005246247.1:p.Leu508Arg, XP_011508719.1:p.Leu422Arg, XP_016860868.1:p.Leu422Arg, XP_016860867.1:p.Leu508Arg

Select item 146658430017.

rs1466584300 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:11215062 (GRCh38)
2:11355188 (GRCh37)
Canonical SPDI:: NC_000002.12:11215061:G:A,NC_000002.12:11215061:G:T
Gene:: ROCK2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000002.12:g.11215062G>A, NC_000002.12:g.11215062G>T, NC_000002.11:g.11355188G>A, NC_000002.11:g.11355188G>T, NG_029769.1:g.134524C>T, NG_029769.1:g.134524C>A, NM_004850.5:c.1714C>T, NM_004850.5:c.1714C>A, NM_004850.4:c.1714C>T, NM_004850.4:c.1714C>A, NM_004850.3:c.1714C>T, NM_004850.3:c.1714C>A, NM_001321643.2:c.1456C>T, NM_001321643.2:c.1456C>A, NM_001321643.1:c.1456C>T, NM_001321643.1:c.1456C>A, XM_005246190.4:c.1714C>T, XM_005246190.4:c.1714C>A, XM_005246190.3:c.1714C>T, XM_005246190.3:c.1714C>A, XM_005246190.2:c.1714C>T, XM_005246190.2:c.1714C>A, XM_005246190.1:c.1714C>T, XM_005246190.1:c.1714C>A, XM_011510417.3:c.1456C>T, XM_011510417.3:c.1456C>A, XM_011510417.2:c.1456C>T, XM_011510417.2:c.1456C>A, XM_011510417.1:c.1456C>T, XM_011510417.1:c.1456C>A, XM_017005379.3:c.1456C>T, XM_017005379.3:c.1456C>A, XM_017005379.2:c.1456C>T, XM_017005379.2:c.1456C>A, XM_017005379.1:c.1456C>T, XM_017005379.1:c.1456C>A, XM_017005378.3:c.1714C>T, XM_017005378.3:c.1714C>A, XM_017005378.2:c.1714C>T, XM_017005378.2:c.1714C>A, XM_017005378.1:c.1714C>T, XM_017005378.1:c.1714C>A, NP_004841.2:p.Arg572Ter, NP_001308572.1:p.Arg486Ter, XP_005246247.1:p.Arg572Ter, XP_011508719.1:p.Arg486Ter, XP_016860868.1:p.Arg486Ter, XP_016860867.1:p.Arg572Ter

Select item 146635703818.

rs1466357038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:11192332 (GRCh38)
2:11332458 (GRCh37)
Canonical SPDI:: NC_000002.12:11192331:G:T
Gene:: ROCK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.11192332G>T, NC_000002.11:g.11332458G>T, NG_029769.1:g.157254C>A, NM_004850.5:c.3979C>A, NM_004850.4:c.3979C>A, NM_004850.3:c.3979C>A, NM_001321643.2:c.3721C>A, NM_001321643.1:c.3721C>A, XM_005246190.4:c.3979C>A, XM_005246190.3:c.3979C>A, XM_005246190.2:c.3979C>A, XM_005246190.1:c.3979C>A, XM_011510417.3:c.3721C>A, XM_011510417.2:c.3721C>A, XM_011510417.1:c.3721C>A, XM_017005379.3:c.3721C>A, XM_017005379.2:c.3721C>A, XM_017005379.1:c.3721C>A, XM_017005378.3:c.3979C>A, XM_017005378.2:c.3979C>A, XM_017005378.1:c.3979C>A, NP_004841.2:p.Leu1327Met, NP_001308572.1:p.Leu1241Met, XP_005246247.1:p.Leu1327Met, XP_011508719.1:p.Leu1241Met, XP_016860868.1:p.Leu1241Met, XP_016860867.1:p.Leu1327Met

Select item 146576038119.

rs1465760381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:11344061 (GRCh38)
2:11484187 (GRCh37)
Canonical SPDI:: NC_000002.12:11344060:G:T
Gene:: ROCK2 (Varview), LOC124907733 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.11344061G>T, NC_000002.11:g.11484187G>T, NG_029769.1:g.5525C>A, NM_004850.5:c.76C>A, NM_004850.4:c.76C>A, NM_004850.3:c.76C>A, XM_005246190.4:c.76C>A, XM_005246190.3:c.76C>A, XM_005246190.2:c.76C>A, XM_005246190.1:c.76C>A, XM_017005378.3:c.76C>A, XM_017005378.2:c.76C>A, XM_017005378.1:c.76C>A, NP_004841.2:p.Arg26Ser, XP_005246247.1:p.Arg26Ser, XP_016860867.1:p.Arg26Ser

Select item 146486095920.

rs1464860959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:11235776 (GRCh38)
2:11375902 (GRCh37)
Canonical SPDI:: NC_000002.12:11235775:G:C
Gene:: ROCK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.11235776G>C, NC_000002.11:g.11375902G>C, NG_029769.1:g.113810C>G, NM_004850.5:c.649C>G, NM_004850.4:c.649C>G, NM_004850.3:c.649C>G, NM_001321643.2:c.391C>G, NM_001321643.1:c.391C>G, XM_005246190.4:c.649C>G, XM_005246190.3:c.649C>G, XM_005246190.2:c.649C>G, XM_005246190.1:c.649C>G, XM_011510417.3:c.391C>G, XM_011510417.2:c.391C>G, XM_011510417.1:c.391C>G, XM_017005379.3:c.391C>G, XM_017005379.2:c.391C>G, XM_017005379.1:c.391C>G, XM_017005378.3:c.649C>G, XM_017005378.2:c.649C>G, XM_017005378.1:c.649C>G, NP_004841.2:p.Pro217Ala, NP_001308572.1:p.Pro131Ala, XP_005246247.1:p.Pro217Ala, XP_011508719.1:p.Pro131Ala, XP_016860868.1:p.Pro131Ala, XP_016860867.1:p.Pro217Ala

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Items: 1 to 20 of 855

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