Canonical Allele Identifier: CA019553

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1756
• ClinVar RCV Id: RCV000001826 ; RCV000030246 ; RCV000202104 ; RCV000491611 ; RCV001204094 ; RCV003987305
• dbSNP Id: rs28929484
• gnomAD v4: 2-47475180-C-T
• MyVariant Identifiers: chr2:g.47702319C>T (hg19) ; chr2:g.47475180C>T (hg38)
• PubMed: PMID:8062247 ; PMID:8261515 ; PMID:9718327 ; PMID:11920458 ; PMID:16395668 ; PMID:18383312 ; PMID:24100870

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475180C>T , CM000664.2:g.47475180C>T	GRCh38
NC_000002.11:g.47702319C>T , CM000664.1:g.47702319C>T	GRCh37
NC_000002.10:g.47555823C>T	NCBI36
NG_007110.2:g.77057C>T , LRG_218:g.77057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1915C>T	ENSP00000495641.2:p.His639Tyr
ENST00000233146.7:c.1915C>T MANE Select	ENSP00000233146.2:p.His639Tyr
ENST00000543555.6:c.1717C>T	ENSP00000442697.1:p.His573Tyr
ENST00000644092.1:c.*215C>T	ENSP00000496351.1:n.*215C>T
ENST00000645339.1:c.1915C>T	ENSP00000496441.1:p.His639Tyr
ENST00000645506.1:c.1915C>T	ENSP00000495455.1:p.His639Tyr
ENST00000646415.1:c.1915C>T	ENSP00000495543.1:p.His639Tyr
ENST00000233146.6:c.1915C>T	ENSP00000233146.2:p.His639Tyr
ENST00000406134.5:c.1915C>T	ENSP00000384199.1:p.His639Tyr
ENST00000543555.5:c.1717C>T	ENSP00000442697.1:p.His573Tyr
ENST00000610696.4:c.*311C>T	ENSP00000483159.1:n.*311C>T
ENST00000613514.4:c.*455C>T	ENSP00000484137.1:n.*455C>T
ENST00000617333.3:c.*681C>T	ENSP00000482468.1:n.*681C>T
ENST00000617938.4:c.*887C>T	ENSP00000481158.1:n.*887C>T
ENST00000621359.2:c.1915C>T	ENSP00000481416.1:p.His639Tyr
NM_000251.2:c.1915C>T , LRG_218t1:c.1915C>T	NP_000242.1:p.His639Tyr
NM_001258281.1:c.1717C>T	NP_001245210.1:p.His573Tyr
XM_005264332.2:c.1915C>T	XP_005264389.2:p.His639Tyr
XM_011532867.1:c.1915C>T	XP_011531169.1:p.His639Tyr
XR_939685.1:n.1987C>T
XM_005264332.4:c.1915C>T	XP_005264389.2:p.His639Tyr
XM_011532867.2:c.1915C>T	XP_011531169.1:p.His639Tyr
XR_001738747.2:n.1977C>T
XR_939685.2:n.1977C>T
NM_000251.3:c.1915C>T MANE Select	NP_000242.1:p.His639Tyr