SNP Links for Protein (Select 289577116) - SNP

Links from Protein

Items: 1 to 20 of 664

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Select item 14896178021.

rs1489617802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:10800775 (GRCh38)
11:10822322 (GRCh37)
Canonical SPDI:: NC_000011.10:10800774:T:C
Gene:: EIF4G2 (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_000011.10:g.10800775T>C, NC_000011.9:g.10822322T>C, NM_001418.4:c.1600A>G, NM_001418.3:c.1600A>G, NM_001042559.3:c.1486A>G, NM_001042559.2:c.1486A>G, NM_001172705.1:c.1600A>G, NP_001409.3:p.Ser534Gly, NP_001036024.3:p.Ser496Gly, NP_001166176.1:p.Ser534Gly

Select item 14880465662.

rs1488046566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:10801721 (GRCh38)
11:10823268 (GRCh37)
Canonical SPDI:: NC_000011.10:10801720:T:C
Gene:: EIF4G2 (Varview), SNORD97 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00006/1 (TOMMO)
HGVS:: NC_000011.10:g.10801721T>C, NC_000011.9:g.10823268T>C, NM_001418.4:c.1353A>G, NM_001418.3:c.1353A>G, NM_001172705.1:c.1353A>G

Select item 14866697183.

rs1486669718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:10802145 (GRCh38)
11:10823692 (GRCh37)
Canonical SPDI:: NC_000011.10:10802144:A:G
Gene:: EIF4G2 (Varview), SNORD97 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.10802145A>G, NC_000011.9:g.10823692A>G, NM_001418.4:c.1203T>C, NM_001418.3:c.1203T>C, NM_001042559.3:c.1203T>C, NM_001042559.2:c.1203T>C, NM_001172705.1:c.1203T>C

Select item 14856955734.

rs1485695573 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:10803056 (GRCh38)
11:10824603 (GRCh37)
Canonical SPDI:: NC_000011.10:10803055:T:C
Gene:: EIF4G2 (Varview), SNORD97 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.10803056T>C, NC_000011.9:g.10824603T>C, NM_001418.4:c.970A>G, NM_001418.3:c.970A>G, NM_001042559.3:c.970A>G, NM_001042559.2:c.970A>G, NM_001172705.1:c.970A>G, NP_001409.3:p.Asn324Asp, NP_001036024.3:p.Asn324Asp, NP_001166176.1:p.Asn324Asp

Select item 14849375245.

rs1484937524 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:10804997 (GRCh38)
11:10826544 (GRCh37)
Canonical SPDI:: NC_000011.10:10804996:A:G
Gene:: EIF4G2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.10804997A>G, NC_000011.9:g.10826544A>G, NM_001418.4:c.267T>C, NM_001418.3:c.267T>C, NM_001042559.3:c.267T>C, NM_001042559.2:c.267T>C, NM_001172705.1:c.267T>C

Select item 14843539216.

rs1484353921 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:10800311 (GRCh38)
11:10821858 (GRCh37)
Canonical SPDI:: NC_000011.10:10800310:T:A
Gene:: EIF4G2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.10800311T>A, NC_000011.9:g.10821858T>A, NM_001418.4:c.1898A>T, NM_001418.3:c.1898A>T, NM_001042559.3:c.1784A>T, NM_001042559.2:c.1784A>T, NM_001172705.1:c.1898A>T, NP_001409.3:p.Glu633Val, NP_001036024.3:p.Glu595Val, NP_001166176.1:p.Glu633Val

Select item 14837374157.

rs1483737415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:10799649 (GRCh38)
11:10821196 (GRCh37)
Canonical SPDI:: NC_000011.10:10799648:A:G
Gene:: EIF4G2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.10799649A>G, NC_000011.9:g.10821196A>G, NM_001418.4:c.2227T>C, NM_001418.3:c.2227T>C, NM_001042559.3:c.2113T>C, NM_001042559.2:c.2113T>C, NM_001172705.1:c.2227T>C

Select item 14836639978.

rs1483663997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:10800813 (GRCh38)
11:10822360 (GRCh37)
Canonical SPDI:: NC_000011.10:10800812:G:C
Gene:: EIF4G2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.10800813G>C, NC_000011.9:g.10822360G>C, NM_001418.4:c.1562C>G, NM_001418.3:c.1562C>G, NM_001042559.3:c.1448C>G, NM_001042559.2:c.1448C>G, NM_001172705.1:c.1562C>G, NP_001409.3:p.Thr521Ser, NP_001036024.3:p.Thr483Ser, NP_001166176.1:p.Thr521Ser

Select item 14801266319.

rs1480126631 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGATATAACCCAAGAGT [Show Flanks]
Chromosome:: 11:10799318 (GRCh38)
11:10820866 (GRCh37)
Canonical SPDI:: NC_000011.10:10799318::AGATATAACCCAAGAGT
Gene:: EIF4G2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.10799318_10799319insAGATATAACCCAAGAGT, NC_000011.9:g.10820865_10820866insAGATATAACCCAAGAGT, NM_001418.4:c.2430_2431insACTCTTGGGTTATATCT, NM_001418.3:c.2430_2431insACTCTTGGGTTATATCT, NM_001042559.3:c.2316_2317insACTCTTGGGTTATATCT, NM_001042559.2:c.2316_2317insACTCTTGGGTTATATCT, NM_001172705.1:c.2430_2431insACTCTTGGGTTATATCT, NP_001409.3:p.Ser811fs, NP_001036024.3:p.Ser773fs, NP_001166176.1:p.Ser811fs

Select item 147693119610.

rs1476931196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:10803087 (GRCh38)
11:10824634 (GRCh37)
Canonical SPDI:: NC_000011.10:10803086:C:T
Gene:: EIF4G2 (Varview), SNORD97 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.10803087C>T, NC_000011.9:g.10824634C>T, NM_001418.4:c.939G>A, NM_001418.3:c.939G>A, NM_001042559.3:c.939G>A, NM_001042559.2:c.939G>A, NM_001172705.1:c.939G>A

Select item 147658239611.

rs1476582396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:10799370 (GRCh38)
11:10820917 (GRCh37)
Canonical SPDI:: NC_000011.10:10799369:T:C
Gene:: EIF4G2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.10799370T>C, NC_000011.9:g.10820917T>C, NM_001418.4:c.2379A>G, NM_001418.3:c.2379A>G, NM_001042559.3:c.2265A>G, NM_001042559.2:c.2265A>G, NM_001172705.1:c.2379A>G

Select item 147623444912.

rs1476234449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:10802085 (GRCh38)
11:10823632 (GRCh37)
Canonical SPDI:: NC_000011.10:10802084:C:G
Gene:: EIF4G2 (Varview), SNORD97 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.10802085C>G, NC_000011.9:g.10823632C>G, NM_001418.4:c.1263G>C, NM_001418.3:c.1263G>C, NM_001042559.3:c.1263G>C, NM_001042559.2:c.1263G>C, NM_001172705.1:c.1263G>C, NP_001409.3:p.Gln421His, NP_001036024.3:p.Gln421His, NP_001166176.1:p.Gln421His

Select item 147545864913.

rs1475458649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:10802407 (GRCh38)
11:10823954 (GRCh37)
Canonical SPDI:: NC_000011.10:10802406:A:G
Gene:: EIF4G2 (Varview), SNORD97 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.10802407A>G, NC_000011.9:g.10823954A>G, NM_001418.4:c.1025T>C, NM_001418.3:c.1025T>C, NM_001042559.3:c.1025T>C, NM_001042559.2:c.1025T>C, NM_001172705.1:c.1025T>C, NP_001409.3:p.Met342Thr, NP_001036024.3:p.Met342Thr, NP_001166176.1:p.Met342Thr

Select item 147513752314.

rs1475137523 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:10799603 (GRCh38)
11:10821150 (GRCh37)
Canonical SPDI:: NC_000011.10:10799602:A:G
Gene:: EIF4G2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.10799603A>G, NC_000011.9:g.10821150A>G, NM_001418.4:c.2273T>C, NM_001418.3:c.2273T>C, NM_001042559.3:c.2159T>C, NM_001042559.2:c.2159T>C, NM_001172705.1:c.2273T>C, NP_001409.3:p.Ile758Thr, NP_001036024.3:p.Ile720Thr, NP_001166176.1:p.Ile758Thr

Select item 147002267215.

rs1470022672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:10804377 (GRCh38)
11:10825924 (GRCh37)
Canonical SPDI:: NC_000011.10:10804376:C:A,NC_000011.10:10804376:C:T
Gene:: EIF4G2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.10804377C>A, NC_000011.10:g.10804377C>T, NC_000011.9:g.10825924C>A, NC_000011.9:g.10825924C>T, NM_001418.4:c.393G>T, NM_001418.4:c.393G>A, NM_001418.3:c.393G>T, NM_001418.3:c.393G>A, NM_001042559.3:c.393G>T, NM_001042559.3:c.393G>A, NM_001042559.2:c.393G>T, NM_001042559.2:c.393G>A, NM_001172705.1:c.393G>T, NM_001172705.1:c.393G>A

Select item 146891193816.

rs1468911938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:10801770 (GRCh38)
11:10823317 (GRCh37)
Canonical SPDI:: NC_000011.10:10801769:A:G
Gene:: EIF4G2 (Varview), SNORD97 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.10801770A>G, NC_000011.9:g.10823317A>G, NM_001418.4:c.1304T>C, NM_001418.3:c.1304T>C, NM_001172705.1:c.1304T>C, NP_001409.3:p.Leu435Pro, NP_001166176.1:p.Leu435Pro

Select item 146833827117.

rs1468338271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:10803907 (GRCh38)
11:10825454 (GRCh37)
Canonical SPDI:: NC_000011.10:10803906:T:C
Gene:: EIF4G2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.10803907T>C, NC_000011.9:g.10825454T>C, NM_001418.4:c.694A>G, NM_001418.3:c.694A>G, NM_001042559.3:c.694A>G, NM_001042559.2:c.694A>G, NM_001172705.1:c.694A>G, NP_001409.3:p.Ile232Val, NP_001036024.3:p.Ile232Val, NP_001166176.1:p.Ile232Val

Select item 146778776818.

rs1467787768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:10799555 (GRCh38)
11:10821102 (GRCh37)
Canonical SPDI:: NC_000011.10:10799554:G:C
Gene:: EIF4G2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.10799555G>C, NC_000011.9:g.10821102G>C, NM_001418.4:c.2321C>G, NM_001418.3:c.2321C>G, NM_001042559.3:c.2207C>G, NM_001042559.2:c.2207C>G, NM_001172705.1:c.2321C>G, NP_001409.3:p.Thr774Ser, NP_001036024.3:p.Thr736Ser, NP_001166176.1:p.Thr774Ser

Select item 146726234019.

rs1467262340 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:10799580 (GRCh38)
11:10821127 (GRCh37)
Canonical SPDI:: NC_000011.10:10799579:T:C
Gene:: EIF4G2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.10799580T>C, NC_000011.9:g.10821127T>C, NM_001418.4:c.2296A>G, NM_001418.3:c.2296A>G, NM_001042559.3:c.2182A>G, NM_001042559.2:c.2182A>G, NM_001172705.1:c.2296A>G, NP_001409.3:p.Lys766Glu, NP_001036024.3:p.Lys728Glu, NP_001166176.1:p.Lys766Glu

Select item 146668426120.

rs1466684261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:10801771 (GRCh38)
11:10823318 (GRCh37)
Canonical SPDI:: NC_000011.10:10801770:G:A
Gene:: EIF4G2 (Varview), SNORD97 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.10801771G>A, NC_000011.9:g.10823318G>A, NM_001418.4:c.1303C>T, NM_001418.3:c.1303C>T, NM_001172705.1:c.1303C>T

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