Canonical Allele Identifier: CA10582002

Gene: MSH2

Linked Data

• ClinVar Variation Id: 237408
• ClinVar RCV Id: RCV000235710 ; RCV000233889 ; RCV000563208 ; RCV003454702
• dbSNP Id: rs878853824
• MyVariant Identifiers: chr2:g.47639697C>T (hg19) ; chr2:g.47412558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412558C>T , CM000664.2:g.47412558C>T	GRCh38
NC_000002.11:g.47639697C>T , CM000664.1:g.47639697C>T	GRCh37
NC_000002.10:g.47493201C>T	NCBI36
NG_007110.2:g.14435C>T , LRG_218:g.14435C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.790C>T	ENSP00000495641.2:p.Gln264Ter
ENST00000233146.7:c.790C>T MANE Select	ENSP00000233146.2:p.Gln264Ter
ENST00000543555.6:c.592C>T	ENSP00000442697.1:p.Gln198Ter
ENST00000644092.1:c.790C>T	ENSP00000496351.1:p.Gln264Ter
ENST00000645339.1:c.790C>T	ENSP00000496441.1:p.Gln264Ter
ENST00000645506.1:c.790C>T	ENSP00000495455.1:p.Gln264Ter
ENST00000646415.1:c.790C>T	ENSP00000495543.1:p.Gln264Ter
ENST00000233146.6:c.790C>T	ENSP00000233146.2:p.Gln264Ter
ENST00000406134.5:c.790C>T	ENSP00000384199.1:p.Gln264Ter
ENST00000543555.5:c.592C>T	ENSP00000442697.1:p.Gln198Ter
ENST00000610696.4:c.790C>T	ENSP00000483159.1:p.Gln264Ter
ENST00000613514.4:c.790C>T	ENSP00000484137.1:p.Gln264Ter
ENST00000617333.3:c.790C>T	ENSP00000482468.1:p.Gln264Ter
ENST00000617938.4:c.790C>T	ENSP00000481158.1:p.Gln264Ter
ENST00000621359.2:c.790C>T	ENSP00000481416.1:p.Gln264Ter
NM_000251.2:c.790C>T , LRG_218t1:c.790C>T	NP_000242.1:p.Gln264Ter
NM_001258281.1:c.592C>T	NP_001245210.1:p.Gln198Ter
XM_005264332.2:c.790C>T	XP_005264389.2:p.Gln264Ter
XM_011532867.1:c.790C>T	XP_011531169.1:p.Gln264Ter
XR_939685.1:n.862C>T
XM_005264332.4:c.790C>T	XP_005264389.2:p.Gln264Ter
XM_011532867.2:c.790C>T	XP_011531169.1:p.Gln264Ter
XR_001738747.2:n.852C>T
XR_939685.2:n.852C>T
NM_000251.3:c.790C>T MANE Select	NP_000242.1:p.Gln264Ter