Canonical Allele Identifier: CA346733213

Gene: MSH2

Linked Data

• ClinVar Variation Id: 428496
• ClinVar RCV Id: RCV000491540 ; RCV000538358 ; RCV001800712 ; RCV003449360
• dbSNP Id: rs979212552
• MyVariant Identifiers: chr2:g.47643534C>T (hg19) ; chr2:g.47416395C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47416395C>T , CM000664.2:g.47416395C>T	GRCh38
NC_000002.11:g.47643534C>T , CM000664.1:g.47643534C>T	GRCh37
NC_000002.10:g.47497038C>T	NCBI36
NG_007110.2:g.18272C>T , LRG_218:g.18272C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1042C>T	ENSP00000495641.2:p.Gln348Ter
ENST00000233146.7:c.1042C>T MANE Select	ENSP00000233146.2:p.Gln348Ter
ENST00000543555.6:c.844C>T	ENSP00000442697.1:p.Gln282Ter
ENST00000644092.1:c.1042C>T	ENSP00000496351.1:p.Gln348Ter
ENST00000645339.1:c.1042C>T	ENSP00000496441.1:p.Gln348Ter
ENST00000645506.1:c.1042C>T	ENSP00000495455.1:p.Gln348Ter
ENST00000646415.1:c.1042C>T	ENSP00000495543.1:p.Gln348Ter
ENST00000233146.6:c.1042C>T	ENSP00000233146.2:p.Gln348Ter
ENST00000406134.5:c.1042C>T	ENSP00000384199.1:p.Gln348Ter
ENST00000543555.5:c.844C>T	ENSP00000442697.1:p.Gln282Ter
ENST00000610696.4:c.1042C>T	ENSP00000483159.1:p.Gln348Ter
ENST00000613514.4:c.1042C>T	ENSP00000484137.1:p.Gln348Ter
ENST00000617333.3:c.1042C>T	ENSP00000482468.1:p.Gln348Ter
ENST00000617938.4:c.*14C>T	ENSP00000481158.1:n.*14C>T
ENST00000621359.2:c.1042C>T	ENSP00000481416.1:p.Gln348Ter
NM_000251.2:c.1042C>T , LRG_218t1:c.1042C>T	NP_000242.1:p.Gln348Ter
NM_001258281.1:c.844C>T	NP_001245210.1:p.Gln282Ter
XM_005264332.2:c.1042C>T	XP_005264389.2:p.Gln348Ter
XM_011532867.1:c.1042C>T	XP_011531169.1:p.Gln348Ter
XR_939685.1:n.1114C>T
XM_005264332.4:c.1042C>T	XP_005264389.2:p.Gln348Ter
XM_011532867.2:c.1042C>T	XP_011531169.1:p.Gln348Ter
XR_001738747.2:n.1104C>T
XR_939685.2:n.1104C>T
NM_000251.3:c.1042C>T MANE Select	NP_000242.1:p.Gln348Ter