Canonical Allele Identifier: CA346730303

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1791488
• ClinVar RCV Id: RCV002430697
• dbSNP Id: rs1573574730
• MyVariant Identifiers: chr2:g.47705650T>C (hg19) ; chr2:g.47478511T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478511T>C , CM000664.2:g.47478511T>C	GRCh38
NC_000002.11:g.47705650T>C , CM000664.1:g.47705650T>C	GRCh37
NC_000002.10:g.47559154T>C	NCBI36
NG_007110.2:g.80388T>C , LRG_218:g.80388T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2450T>C	ENSP00000495641.2:p.Val817Ala
ENST00000233146.7:c.2450T>C MANE Select	ENSP00000233146.2:p.Val817Ala
ENST00000543555.6:c.2252T>C	ENSP00000442697.1:p.Val751Ala
ENST00000644092.1:c.*750T>C	ENSP00000496351.1:n.*750T>C
ENST00000644900.1:c.303T>C
ENST00000645339.1:c.2450T>C	ENSP00000496441.1:p.Val817Ala
ENST00000645506.1:c.2450T>C	ENSP00000495455.1:p.Val817Ala
ENST00000646415.1:c.2450T>C	ENSP00000495543.1:p.Val817Ala
ENST00000233146.6:c.2450T>C	ENSP00000233146.2:p.Val817Ala
ENST00000406134.5:c.2450T>C	ENSP00000384199.1:p.Val817Ala
ENST00000543555.5:c.2252T>C	ENSP00000442697.1:p.Val751Ala
ENST00000610696.4:c.*846T>C	ENSP00000483159.1:n.*846T>C
ENST00000613514.4:c.*990T>C	ENSP00000484137.1:n.*990T>C
ENST00000617333.3:c.*1216T>C	ENSP00000482468.1:n.*1216T>C
ENST00000617938.4:c.*1422T>C	ENSP00000481158.1:n.*1422T>C
ENST00000621359.2:c.*16T>C	ENSP00000481416.1:n.*16T>C
NM_000251.2:c.2450T>C , LRG_218t1:c.2450T>C	NP_000242.1:p.Val817Ala
NM_001258281.1:c.2252T>C	NP_001245210.1:p.Val751Ala
XM_005264332.2:c.2450T>C	XP_005264389.2:p.Val817Ala
XM_011532867.1:c.2450T>C	XP_011531169.1:p.Val817Ala
XR_939685.1:n.2522T>C
XM_005264332.4:c.2450T>C	XP_005264389.2:p.Val817Ala
XM_011532867.2:c.2450T>C	XP_011531169.1:p.Val817Ala
XR_001738747.2:n.2512T>C
XR_939685.2:n.2512T>C
NM_000251.3:c.2450T>C MANE Select	NP_000242.1:p.Val817Ala