Canonical Allele Identifier: CA346731558

Gene: MSH2

Linked Data

• ClinVar Variation Id: 455581
• ClinVar RCV Id: RCV000539916 ; RCV000561718 ; RCV001357777 ; RCV003459180 ; RCV003441913
• dbSNP Id: rs786203553
• gnomAD v4: 2-47482828-C-T
• MyVariant Identifiers: chr2:g.47709967C>T (hg19) ; chr2:g.47482828C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482828C>T , CM000664.2:g.47482828C>T	GRCh38
NC_000002.11:g.47709967C>T , CM000664.1:g.47709967C>T	GRCh37
NC_000002.10:g.47563471C>T	NCBI36
NG_007110.2:g.84705C>T , LRG_218:g.84705C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+1957C>T	ENSP00000495641.2:n.2634+1957C>T
ENST00000233146.7:c.2684C>T MANE Select	ENSP00000233146.2:p.Pro895Leu
ENST00000543555.6:c.2486C>T	ENSP00000442697.1:p.Pro829Leu
ENST00000644092.1:c.*934+1957C>T	ENSP00000496351.1:n.*934+1957C>T
ENST00000644900.1:c.487+1957C>T
ENST00000645339.1:c.2634+1957C>T	ENSP00000496441.1:n.2634+1957C>T
ENST00000645506.1:c.2634+1957C>T	ENSP00000495455.1:n.2634+1957C>T
ENST00000646415.1:c.2634+1957C>T	ENSP00000495543.1:n.2634+1957C>T
ENST00000233146.6:c.2684C>T	ENSP00000233146.2:p.Pro895Leu
ENST00000406134.5:c.2634+1957C>T	ENSP00000384199.1:n.2634+1957C>T
ENST00000461394.5:n.75+1957C>T
ENST00000543555.5:c.2486C>T	ENSP00000442697.1:p.Pro829Leu
ENST00000610696.4:c.*1080C>T	ENSP00000483159.1:n.*1080C>T
ENST00000613514.4:c.*1224C>T	ENSP00000484137.1:n.*1224C>T
ENST00000617333.3:c.*1450C>T	ENSP00000482468.1:n.*1450C>T
ENST00000617938.4:c.*1656C>T	ENSP00000481158.1:n.*1656C>T
ENST00000621359.2:c.*250C>T	ENSP00000481416.1:n.*250C>T
NM_000251.2:c.2684C>T , LRG_218t1:c.2684C>T	NP_000242.1:p.Pro895Leu
NM_001258281.1:c.2486C>T	NP_001245210.1:p.Pro829Leu
XM_005264332.2:c.2634+1957C>T	XP_005264389.2:n.2634+1957C>T
XM_011532867.1:c.2634+1957C>T	XP_011531169.1:n.2634+1957C>T
XR_939685.1:n.2706+1957C>T
XM_005264332.4:c.2634+1957C>T	XP_005264389.2:n.2634+1957C>T
XM_011532867.2:c.2634+1957C>T	XP_011531169.1:n.2634+1957C>T
XR_001738747.2:n.2696+1957C>T
XR_939685.2:n.2696+1957C>T
NM_000251.3:c.2684C>T MANE Select	NP_000242.1:p.Pro895Leu