Canonical Allele Identifier: CA018924

Gene: MSH2

Linked Data

• ClinVar Variation Id: 36568
• ClinVar RCV Id: RCV000030242 ; RCV000126816 ; RCV000202289 ; RCV000625239 ; RCV000755303 ; RCV001092633 ; RCV001353940 ; RCV001798018 ; RCV002490418
• dbSNP Id: rs61756466
• ExAC: 2:47698108 T / C
• gnomAD v2: 2-47698108-T-C
• gnomAD v3: 2-47470969-T-C
• gnomAD v4: 2-47470969-T-C
• MyVariant Identifiers: chr2:g.47698108T>C (hg19) ; chr2:g.47470969T>C (hg38)
• PubMed: PMID:7726159 ; PMID:9298827 ; PMID:11112663 ; PMID:11870161 ; PMID:12547705 ; PMID:15849733 ; PMID:16395668 ; PMID:16614121 ; PMID:17661183 ; PMID:18561205 ; PMID:21239990

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47470969T>C , CM000664.2:g.47470969T>C	GRCh38
NC_000002.11:g.47698108T>C , CM000664.1:g.47698108T>C	GRCh37
NC_000002.10:g.47551612T>C	NCBI36
NG_007110.2:g.72846T>C , LRG_218:g.72846T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1666T>C	ENSP00000495641.2:p.Leu556=
ENST00000233146.7:c.1666T>C MANE Select	ENSP00000233146.2:p.Leu556=
ENST00000543555.6:c.1468T>C	ENSP00000442697.1:p.Leu490=
ENST00000644092.1:c.1662-19T>C	ENSP00000496351.1:n.1662-19T>C
ENST00000645339.1:c.1666T>C	ENSP00000496441.1:p.Leu556=
ENST00000645506.1:c.1666T>C	ENSP00000495455.1:p.Leu556=
ENST00000646415.1:c.1666T>C	ENSP00000495543.1:p.Leu556=
ENST00000233146.6:c.1666T>C	ENSP00000233146.2:p.Leu556=
ENST00000406134.5:c.1666T>C	ENSP00000384199.1:p.Leu556=
ENST00000543555.5:c.1468T>C	ENSP00000442697.1:p.Leu490=
ENST00000610696.4:c.*62T>C	ENSP00000483159.1:n.*62T>C
ENST00000613514.4:c.*206T>C	ENSP00000484137.1:n.*206T>C
ENST00000617333.3:c.*432T>C	ENSP00000482468.1:n.*432T>C
ENST00000617938.4:c.*638T>C	ENSP00000481158.1:n.*638T>C
ENST00000621359.2:c.1666T>C	ENSP00000481416.1:p.Leu556=
NM_000251.2:c.1666T>C , LRG_218t1:c.1666T>C	NP_000242.1:p.Leu556=
NM_001258281.1:c.1468T>C	NP_001245210.1:p.Leu490=
XM_005264332.2:c.1666T>C	XP_005264389.2:p.Leu556=
XM_011532867.1:c.1666T>C	XP_011531169.1:p.Leu556=
XR_939685.1:n.1738T>C
XM_005264332.4:c.1666T>C	XP_005264389.2:p.Leu556=
XM_011532867.2:c.1666T>C	XP_011531169.1:p.Leu556=
XR_001738747.2:n.1728T>C
XR_939685.2:n.1728T>C
NM_000251.3:c.1666T>C MANE Select	NP_000242.1:p.Leu556=