Canonical Allele Identifier: CA346730541

Gene: MSH2

Linked Data

• ClinVar Variation Id: 652445
• ClinVar RCV Id: RCV000807996
• dbSNP Id: rs63749846
• MyVariant Identifiers: chr2:g.47707842T>G (hg19) ; chr2:g.47480703T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480703T>G , CM000664.2:g.47480703T>G	GRCh38
NC_000002.11:g.47707842T>G , CM000664.1:g.47707842T>G	GRCh37
NC_000002.10:g.47561346T>G	NCBI36
NG_007110.2:g.82580T>G , LRG_218:g.82580T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2466T>G	ENSP00000495641.2:p.Cys822Trp
ENST00000233146.7:c.2466T>G MANE Select	ENSP00000233146.2:p.Cys822Trp
ENST00000543555.6:c.2268T>G	ENSP00000442697.1:p.Cys756Trp
ENST00000644092.1:c.*766T>G	ENSP00000496351.1:n.*766T>G
ENST00000644900.1:c.319T>G
ENST00000645339.1:c.2466T>G	ENSP00000496441.1:p.Cys822Trp
ENST00000645506.1:c.2466T>G	ENSP00000495455.1:p.Cys822Trp
ENST00000646415.1:c.2466T>G	ENSP00000495543.1:p.Cys822Trp
ENST00000233146.6:c.2466T>G	ENSP00000233146.2:p.Cys822Trp
ENST00000406134.5:c.2466T>G	ENSP00000384199.1:p.Cys822Trp
ENST00000543555.5:c.2268T>G	ENSP00000442697.1:p.Cys756Trp
ENST00000610696.4:c.*862T>G	ENSP00000483159.1:n.*862T>G
ENST00000613514.4:c.*1006T>G	ENSP00000484137.1:n.*1006T>G
ENST00000617333.3:c.*1232T>G	ENSP00000482468.1:n.*1232T>G
ENST00000617938.4:c.*1438T>G	ENSP00000481158.1:n.*1438T>G
ENST00000621359.2:c.*32T>G	ENSP00000481416.1:n.*32T>G
NM_000251.2:c.2466T>G , LRG_218t1:c.2466T>G	NP_000242.1:p.Cys822Trp
NM_001258281.1:c.2268T>G	NP_001245210.1:p.Cys756Trp
XM_005264332.2:c.2466T>G	XP_005264389.2:p.Cys822Trp
XM_011532867.1:c.2466T>G	XP_011531169.1:p.Cys822Trp
XR_939685.1:n.2538T>G
XM_005264332.4:c.2466T>G	XP_005264389.2:p.Cys822Trp
XM_011532867.2:c.2466T>G	XP_011531169.1:p.Cys822Trp
XR_001738747.2:n.2528T>G
XR_939685.2:n.2528T>G
NM_000251.3:c.2466T>G MANE Select	NP_000242.1:p.Cys822Trp