SNP Links for Protein (Select 44680154) - SNP

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Links from Protein

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Select item 14849535881.

rs1484953588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:95849714 (GRCh38)
11:95582878 (GRCh37)
Canonical SPDI:: NC_000011.10:95849713:A:G
Gene:: MTMR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.95849714A>G, NC_000011.9:g.95582878A>G, NG_008333.1:g.79494T>C, NM_016156.6:c.953T>C, NM_016156.5:c.953T>C, NM_201278.3:c.737T>C, NM_201278.2:c.737T>C, NM_201281.3:c.737T>C, NM_201281.2:c.737T>C, NM_001243571.2:c.737T>C, NM_001243571.1:c.737T>C, NR_023356.2:n.1473T>C, NR_023354.1:n.1362T>C, NR_023356.1:n.1312T>C, NR_023355.1:n.1239T>C, XM_047427807.1:c.737T>C, XM_047427806.1:c.737T>C, XM_047427808.1:c.737T>C, XM_047427805.1:c.812T>C, NM_003912.1:c.953T>C, NP_057240.3:p.Ile318Thr, NP_958435.1:p.Ile246Thr, NP_958438.1:p.Ile246Thr, NP_001230500.1:p.Ile246Thr, XP_047283763.1:p.Ile246Thr, XP_047283762.1:p.Ile246Thr, XP_047283764.1:p.Ile246Thr, XP_047283761.1:p.Ile271Thr

Select item 14793374402.

rs1479337440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:95923908 (GRCh38)
11:95657072 (GRCh37)
Canonical SPDI:: NC_000011.10:95923907:G:T
Gene:: MTMR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000011.10:g.95923908G>T, NC_000011.9:g.95657072G>T, NG_008333.1:g.5300C>A, NM_016156.6:c.47C>A, NM_016156.5:c.47C>A, NM_201278.3:c.-364C>A, NM_201278.2:c.-364C>A, NM_201281.3:c.-241C>A, NM_201281.2:c.-241C>A, NM_001243571.2:c.-437C>A, NM_001243571.1:c.-437C>A, NR_023356.2:n.300C>A, NR_023354.1:n.262C>A, NR_023356.1:n.262C>A, NR_023355.1:n.262C>A, NM_003912.1:c.47C>A, NP_057240.3:p.Ala16Glu

Select item 14791191253.

rs1479119125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:95847780 (GRCh38)
11:95580944 (GRCh37)
Canonical SPDI:: NC_000011.10:95847779:G:A
Gene:: MTMR2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.95847780G>A, NC_000011.9:g.95580944G>A, NG_008333.1:g.81428C>T, NM_016156.6:c.1113C>T, NM_016156.5:c.1113C>T, NM_201278.3:c.897C>T, NM_201278.2:c.897C>T, NM_201281.3:c.897C>T, NM_201281.2:c.897C>T, NM_001243571.2:c.897C>T, NM_001243571.1:c.897C>T, NR_023356.2:n.1633C>T, NR_023354.1:n.1522C>T, NR_023356.1:n.1472C>T, NR_023355.1:n.1399C>T, XM_047427807.1:c.897C>T, XM_047427806.1:c.897C>T, XM_047427808.1:c.897C>T, XM_047427805.1:c.972C>T, NM_003912.1:c.1113C>T

Select item 14755494914.

rs1475549491 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:95847897 (GRCh38)
11:95581061 (GRCh37)
Canonical SPDI:: NC_000011.10:95847896:T:A
Gene:: MTMR2 (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_000011.10:g.95847897T>A, NC_000011.9:g.95581061T>A, NG_008333.1:g.81311A>T, NM_016156.6:c.996A>T, NM_016156.5:c.996A>T, NM_201278.3:c.780A>T, NM_201278.2:c.780A>T, NM_201281.3:c.780A>T, NM_201281.2:c.780A>T, NM_001243571.2:c.780A>T, NM_001243571.1:c.780A>T, NR_023356.2:n.1516A>T, NR_023354.1:n.1405A>T, NR_023356.1:n.1355A>T, NR_023355.1:n.1282A>T, XM_047427807.1:c.780A>T, XM_047427806.1:c.780A>T, XM_047427808.1:c.780A>T, XM_047427805.1:c.855A>T, NM_003912.1:c.996A>T

Select item 14674436485.

rs1467443648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:95857575 (GRCh38)
11:95590739 (GRCh37)
Canonical SPDI:: NC_000011.10:95857574:G:A
Gene:: MTMR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.95857575G>A, NC_000011.9:g.95590739G>A, NG_008333.1:g.71633C>T, NM_016156.6:c.631C>T, NM_016156.5:c.631C>T, NM_201278.3:c.415C>T, NM_201278.2:c.415C>T, NM_201281.3:c.415C>T, NM_201281.2:c.415C>T, NM_001243571.2:c.415C>T, NM_001243571.1:c.415C>T, NR_023356.2:n.1151C>T, NR_023354.1:n.1040C>T, NR_023356.1:n.990C>T, NR_023355.1:n.917C>T, XM_047427807.1:c.415C>T, XM_047427806.1:c.415C>T, XM_047427808.1:c.415C>T, XM_047427805.1:c.490C>T, NM_003912.1:c.631C>T, NP_057240.3:p.Pro211Ser, NP_958435.1:p.Pro139Ser, NP_958438.1:p.Pro139Ser, NP_001230500.1:p.Pro139Ser, XP_047283763.1:p.Pro139Ser, XP_047283762.1:p.Pro139Ser, XP_047283764.1:p.Pro139Ser, XP_047283761.1:p.Pro164Ser

Select item 14658502926.

rs1465850292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:95849779 (GRCh38)
11:95582943 (GRCh37)
Canonical SPDI:: NC_000011.10:95849778:G:A
Gene:: MTMR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.95849779G>A, NC_000011.9:g.95582943G>A, NG_008333.1:g.79429C>T, NM_016156.6:c.888C>T, NM_016156.5:c.888C>T, NM_201278.3:c.672C>T, NM_201278.2:c.672C>T, NM_201281.3:c.672C>T, NM_201281.2:c.672C>T, NM_001243571.2:c.672C>T, NM_001243571.1:c.672C>T, NR_023356.2:n.1408C>T, NR_023354.1:n.1297C>T, NR_023356.1:n.1247C>T, NR_023355.1:n.1174C>T, XM_047427807.1:c.672C>T, XM_047427806.1:c.672C>T, XM_047427808.1:c.672C>T, XM_047427805.1:c.747C>T, NM_003912.1:c.888C>T

Select item 14643625537.

rs1464362553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:95862000 (GRCh38)
11:95595164 (GRCh37)
Canonical SPDI:: NC_000011.10:95861999:C:T
Gene:: MTMR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.95862000C>T, NC_000011.9:g.95595164C>T, NG_008333.1:g.67208G>A, NM_016156.6:c.460G>A, NM_016156.5:c.460G>A, NM_201278.3:c.244G>A, NM_201278.2:c.244G>A, NM_201281.3:c.244G>A, NM_201281.2:c.244G>A, NM_001243571.2:c.244G>A, NM_001243571.1:c.244G>A, NR_023356.2:n.980G>A, NR_023354.1:n.869G>A, NR_023356.1:n.819G>A, NR_023355.1:n.746G>A, XM_047427807.1:c.244G>A, XM_047427806.1:c.244G>A, XM_047427808.1:c.244G>A, XM_047427805.1:c.319G>A, NM_003912.1:c.460G>A, NP_057240.3:p.Val154Met, NP_958435.1:p.Val82Met, NP_958438.1:p.Val82Met, NP_001230500.1:p.Val82Met, XP_047283763.1:p.Val82Met, XP_047283762.1:p.Val82Met, XP_047283764.1:p.Val82Met, XP_047283761.1:p.Val107Met

Select item 14601103448.

rs1460110344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:95847722 (GRCh38)
11:95580886 (GRCh37)
Canonical SPDI:: NC_000011.10:95847721:G:T
Gene:: MTMR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.95847722G>T, NC_000011.9:g.95580886G>T, NG_008333.1:g.81486C>A, NM_016156.6:c.1171C>A, NM_016156.5:c.1171C>A, NM_201278.3:c.955C>A, NM_201278.2:c.955C>A, NM_201281.3:c.955C>A, NM_201281.2:c.955C>A, NM_001243571.2:c.955C>A, NM_001243571.1:c.955C>A, NR_023356.2:n.1691C>A, NR_023354.1:n.1580C>A, NR_023356.1:n.1530C>A, NR_023355.1:n.1457C>A, XM_047427807.1:c.955C>A, XM_047427806.1:c.955C>A, XM_047427808.1:c.955C>A, XM_047427805.1:c.1030C>A, NM_003912.1:c.1171C>A, NP_057240.3:p.His391Asn, NP_958435.1:p.His319Asn, NP_958438.1:p.His319Asn, NP_001230500.1:p.His319Asn, XP_047283763.1:p.His319Asn, XP_047283762.1:p.His319Asn, XP_047283764.1:p.His319Asn, XP_047283761.1:p.His344Asn

Select item 14562174779.

rs1456217477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:95858620 (GRCh38)
11:95591784 (GRCh37)
Canonical SPDI:: NC_000011.10:95858619:A:C
Gene:: MTMR2 (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.95858620A>C, NC_000011.9:g.95591784A>C, NG_008333.1:g.70588T>G, NM_016156.6:c.481T>G, NM_016156.5:c.481T>G, NM_201278.3:c.265T>G, NM_201278.2:c.265T>G, NM_201281.3:c.265T>G, NM_201281.2:c.265T>G, NM_001243571.2:c.265T>G, NM_001243571.1:c.265T>G, NR_023356.2:n.1001T>G, NR_023354.1:n.890T>G, NR_023356.1:n.840T>G, NR_023355.1:n.767T>G, XM_047427807.1:c.265T>G, XM_047427806.1:c.265T>G, XM_047427808.1:c.265T>G, XM_047427805.1:c.340T>G, NM_003912.1:c.481T>G, NP_057240.3:p.Leu161Val, NP_958435.1:p.Leu89Val, NP_958438.1:p.Leu89Val, NP_001230500.1:p.Leu89Val, XP_047283763.1:p.Leu89Val, XP_047283762.1:p.Leu89Val, XP_047283764.1:p.Leu89Val, XP_047283761.1:p.Leu114Val

Select item 145569440110.

rs1455694401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:95845056 (GRCh38)
11:95578220 (GRCh37)
Canonical SPDI:: NC_000011.10:95845055:G:A
Gene:: MTMR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.95845056G>A, NC_000011.9:g.95578220G>A, NG_008333.1:g.84152C>T, NM_016156.6:c.1283C>T, NM_016156.5:c.1283C>T, NM_201278.3:c.1067C>T, NM_201278.2:c.1067C>T, NM_201281.3:c.1067C>T, NM_201281.2:c.1067C>T, NM_001243571.2:c.1067C>T, NM_001243571.1:c.1067C>T, NR_023356.2:n.1803C>T, NR_023354.1:n.1692C>T, NR_023356.1:n.1642C>T, NR_023355.1:n.1569C>T, XM_047427807.1:c.1067C>T, XM_047427806.1:c.1067C>T, XM_047427808.1:c.1067C>T, XM_047427805.1:c.1142C>T, NM_003912.1:c.1283C>T, NP_057240.3:p.Thr428Ile, NP_958435.1:p.Thr356Ile, NP_958438.1:p.Thr356Ile, NP_001230500.1:p.Thr356Ile, XP_047283763.1:p.Thr356Ile, XP_047283762.1:p.Thr356Ile, XP_047283764.1:p.Thr356Ile, XP_047283761.1:p.Thr381Ile

Select item 145344344611.

rs1453443446 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:95836240 (GRCh38)
11:95569404 (GRCh37)
Canonical SPDI:: NC_000011.10:95836239:A:C
Gene:: MTMR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.95836240A>C, NC_000011.9:g.95569404A>C, NG_008333.1:g.92968T>G, NM_016156.6:c.1678T>G, NM_016156.5:c.1678T>G, NM_201278.3:c.1462T>G, NM_201278.2:c.1462T>G, NM_201281.3:c.1462T>G, NM_201281.2:c.1462T>G, NM_001243571.2:c.1462T>G, NM_001243571.1:c.1462T>G, NR_023356.2:n.2198T>G, NR_023354.1:n.2087T>G, NR_023356.1:n.2037T>G, NR_023355.1:n.1964T>G, XM_047427807.1:c.1462T>G, XM_047427806.1:c.1462T>G, XM_047427808.1:c.1462T>G, XM_047427805.1:c.1537T>G, NM_003912.1:c.1678T>G, NP_057240.3:p.Ser560Ala, NP_958435.1:p.Ser488Ala, NP_958438.1:p.Ser488Ala, NP_001230500.1:p.Ser488Ala, XP_047283763.1:p.Ser488Ala, XP_047283762.1:p.Ser488Ala, XP_047283764.1:p.Ser488Ala, XP_047283761.1:p.Ser513Ala

Select item 145337739412.

rs1453377394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:95838116 (GRCh38)
11:95571280 (GRCh37)
Canonical SPDI:: NC_000011.10:95838115:C:T
Gene:: MTMR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.95838116C>T, NC_000011.9:g.95571280C>T, NG_008333.1:g.91092G>A, NM_016156.6:c.1571G>A, NM_016156.5:c.1571G>A, NM_201278.3:c.1355G>A, NM_201278.2:c.1355G>A, NM_201281.3:c.1355G>A, NM_201281.2:c.1355G>A, NM_001243571.2:c.1355G>A, NM_001243571.1:c.1355G>A, NR_023356.2:n.2091G>A, NR_023354.1:n.1980G>A, NR_023356.1:n.1930G>A, NR_023355.1:n.1857G>A, XM_047427807.1:c.1355G>A, XM_047427806.1:c.1355G>A, XM_047427808.1:c.1355G>A, XM_047427805.1:c.1430G>A, NM_003912.1:c.1571G>A, NP_057240.3:p.Ser524Asn, NP_958435.1:p.Ser452Asn, NP_958438.1:p.Ser452Asn, NP_001230500.1:p.Ser452Asn, XP_047283763.1:p.Ser452Asn, XP_047283762.1:p.Ser452Asn, XP_047283764.1:p.Ser452Asn, XP_047283761.1:p.Ser477Asn

Select item 145217225813.

rs1452172258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:95862290 (GRCh38)
11:95595454 (GRCh37)
Canonical SPDI:: NC_000011.10:95862289:A:G
Gene:: MTMR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.95862290A>G, NC_000011.9:g.95595454A>G, NG_008333.1:g.66918T>C, NM_016156.6:c.339T>C, NM_016156.5:c.339T>C, NM_201278.3:c.123T>C, NM_201278.2:c.123T>C, NM_201281.3:c.123T>C, NM_201281.2:c.123T>C, NM_001243571.2:c.123T>C, NM_001243571.1:c.123T>C, NR_023356.2:n.859T>C, NR_023354.1:n.748T>C, NR_023356.1:n.698T>C, NR_023355.1:n.625T>C, XM_047427807.1:c.123T>C, XM_047427806.1:c.123T>C, XM_047427808.1:c.123T>C, XM_047427805.1:c.198T>C, NM_003912.1:c.339T>C

Select item 145157493214.

rs1451574932 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGT [Show Flanks]
Chromosome:: 11:95888173 (GRCh38)
11:95621338 (GRCh37)
Canonical SPDI:: NC_000011.10:95888173:GTTGT:GTTGTTGT
Gene:: MTMR2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,inframe_insertion,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: GTT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.95888176_95888178dup, NC_000011.9:g.95621340_95621342dup, NG_008333.1:g.41032_41034dup, NM_016156.6:c.166_168dup, NM_016156.5:c.166_168dup, NM_201278.3:c.-174_-172dup, NM_201278.2:c.-174_-172dup, NM_201281.3:c.-51_-49dup, NM_201281.2:c.-51_-49dup, NM_001243571.2:c.-247_-245dup, NM_001243571.1:c.-247_-245dup, NR_023356.2:n.490_492dup, NR_023354.1:n.452_454dup, NR_023356.1:n.452_454dup, NR_023355.1:n.452_454dup, XM_047427807.1:c.-51_-49dup, XM_047427806.1:c.-51_-49dup, XM_047427808.1:c.-124_-122dup, NM_003912.1:c.166_168dup, NP_057240.3:p.Asn56dup

Select item 144911023415.

rs1449110234 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:95850635 (GRCh38)
11:95583799 (GRCh37)
Canonical SPDI:: NC_000011.10:95850634:T:C
Gene:: MTMR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0./0 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.95850635T>C, NC_000011.9:g.95583799T>C, NG_008333.1:g.78573A>G, NM_016156.6:c.769A>G, NM_016156.5:c.769A>G, NM_201278.3:c.553A>G, NM_201278.2:c.553A>G, NM_201281.3:c.553A>G, NM_201281.2:c.553A>G, NM_001243571.2:c.553A>G, NM_001243571.1:c.553A>G, NR_023356.2:n.1289A>G, NR_023354.1:n.1178A>G, NR_023356.1:n.1128A>G, NR_023355.1:n.1055A>G, XM_047427807.1:c.553A>G, XM_047427806.1:c.553A>G, XM_047427808.1:c.553A>G, XM_047427805.1:c.628A>G, NM_003912.1:c.769A>G, NP_057240.3:p.Arg257Gly, NP_958435.1:p.Arg185Gly, NP_958438.1:p.Arg185Gly, NP_001230500.1:p.Arg185Gly, XP_047283763.1:p.Arg185Gly, XP_047283762.1:p.Arg185Gly, XP_047283764.1:p.Arg185Gly, XP_047283761.1:p.Arg210Gly

Select item 144782511816.

rs1447825118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:95835354 (GRCh38)
11:95568518 (GRCh37)
Canonical SPDI:: NC_000011.10:95835353:G:A
Gene:: MTMR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.95835354G>A, NC_000011.9:g.95568518G>A, NG_008333.1:g.93854C>T, NM_016156.6:c.1868C>T, NM_016156.5:c.1868C>T, NM_201278.3:c.1652C>T, NM_201278.2:c.1652C>T, NM_201281.3:c.1652C>T, NM_201281.2:c.1652C>T, NM_001243571.2:c.1652C>T, NM_001243571.1:c.1652C>T, NR_023356.2:n.2388C>T, NR_023354.1:n.2277C>T, NR_023356.1:n.2227C>T, NR_023355.1:n.2154C>T, XM_047427807.1:c.1652C>T, XM_047427806.1:c.1652C>T, XM_047427808.1:c.1652C>T, XM_047427805.1:c.1727C>T, NM_003912.1:c.1868C>T, NP_057240.3:p.Thr623Ile, NP_958435.1:p.Thr551Ile, NP_958438.1:p.Thr551Ile, NP_001230500.1:p.Thr551Ile, XP_047283763.1:p.Thr551Ile, XP_047283762.1:p.Thr551Ile, XP_047283764.1:p.Thr551Ile, XP_047283761.1:p.Thr576Ile

Select item 144699832217.

rs1446998322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:95849688 (GRCh38)
11:95582852 (GRCh37)
Canonical SPDI:: NC_000011.10:95849687:C:T
Gene:: MTMR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.95849688C>T, NC_000011.9:g.95582852C>T, NG_008333.1:g.79520G>A, NM_016156.6:c.979G>A, NM_016156.5:c.979G>A, NM_201278.3:c.763G>A, NM_201278.2:c.763G>A, NM_201281.3:c.763G>A, NM_201281.2:c.763G>A, NM_001243571.2:c.763G>A, NM_001243571.1:c.763G>A, NR_023356.2:n.1499G>A, NR_023354.1:n.1388G>A, NR_023356.1:n.1338G>A, NR_023355.1:n.1265G>A, XM_047427807.1:c.763G>A, XM_047427806.1:c.763G>A, XM_047427808.1:c.763G>A, XM_047427805.1:c.838G>A, NM_003912.1:c.979G>A, NP_057240.3:p.Ala327Thr, NP_958435.1:p.Ala255Thr, NP_958438.1:p.Ala255Thr, NP_001230500.1:p.Ala255Thr, XP_047283763.1:p.Ala255Thr, XP_047283762.1:p.Ala255Thr, XP_047283764.1:p.Ala255Thr, XP_047283761.1:p.Ala280Thr

Select item 144544648418.

rs1445446484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:95923877 (GRCh38)
11:95657041 (GRCh37)
Canonical SPDI:: NC_000011.10:95923876:G:A
Gene:: MTMR2 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.95923877G>A, NC_000011.9:g.95657041G>A, NG_008333.1:g.5331C>T, NM_016156.6:c.78C>T, NM_016156.5:c.78C>T, NM_201278.3:c.-333C>T, NM_201278.2:c.-333C>T, NM_201281.3:c.-210C>T, NM_201281.2:c.-210C>T, NM_001243571.2:c.-406C>T, NM_001243571.1:c.-406C>T, NR_023356.2:n.331C>T, NR_023354.1:n.293C>T, NR_023356.1:n.293C>T, NR_023355.1:n.293C>T, NM_003912.1:c.78C>T

Select item 144543702419.

rs1445437024 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:95844971 (GRCh38)
11:95578135 (GRCh37)
Canonical SPDI:: NC_000011.10:95844970:A:T
Gene:: MTMR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.95844971A>T, NC_000011.9:g.95578135A>T, NG_008333.1:g.84237T>A, NM_016156.6:c.1368T>A, NM_016156.5:c.1368T>A, NM_201278.3:c.1152T>A, NM_201278.2:c.1152T>A, NM_201281.3:c.1152T>A, NM_201281.2:c.1152T>A, NM_001243571.2:c.1152T>A, NM_001243571.1:c.1152T>A, NR_023356.2:n.1888T>A, NR_023354.1:n.1777T>A, NR_023356.1:n.1727T>A, NR_023355.1:n.1654T>A, XM_047427807.1:c.1152T>A, XM_047427806.1:c.1152T>A, XM_047427808.1:c.1152T>A, XM_047427805.1:c.1227T>A, NM_003912.1:c.1368T>A, NP_057240.3:p.Phe456Leu, NP_958435.1:p.Phe384Leu, NP_958438.1:p.Phe384Leu, NP_001230500.1:p.Phe384Leu, XP_047283763.1:p.Phe384Leu, XP_047283762.1:p.Phe384Leu, XP_047283764.1:p.Phe384Leu, XP_047283761.1:p.Phe409Leu

Select item 144275028820.

rs1442750288 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:95835315 (GRCh38)
11:95568479 (GRCh37)
Canonical SPDI:: NC_000011.10:95835314:A:T
Gene:: MTMR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.95835315A>T, NC_000011.9:g.95568479A>T, NG_008333.1:g.93893T>A, NM_016156.6:c.1907T>A, NM_016156.5:c.1907T>A, NM_201278.3:c.1691T>A, NM_201278.2:c.1691T>A, NM_201281.3:c.1691T>A, NM_201281.2:c.1691T>A, NM_001243571.2:c.1691T>A, NM_001243571.1:c.1691T>A, NR_023356.2:n.2427T>A, NR_023354.1:n.2316T>A, NR_023356.1:n.2266T>A, NR_023355.1:n.2193T>A, XM_047427807.1:c.1691T>A, XM_047427806.1:c.1691T>A, XM_047427808.1:c.1691T>A, XM_047427805.1:c.1766T>A, NM_003912.1:c.1907T>A, NP_057240.3:p.Val636Asp, NP_958435.1:p.Val564Asp, NP_958438.1:p.Val564Asp, NP_001230500.1:p.Val564Asp, XP_047283763.1:p.Val564Asp, XP_047283762.1:p.Val564Asp, XP_047283764.1:p.Val564Asp, XP_047283761.1:p.Val589Asp

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