Canonical Allele Identifier: CA037530

Gene: MSH2

Linked Data

• ClinVar Variation Id: 237393
• ClinVar RCV Id: RCV000565937 ; RCV000663160 ; RCV000485086 ; RCV000231382 ; RCV000781561
• dbSNP Id: rs199747712
• ExAC: 2:47710060 T / A
• gnomAD v2: 2-47710060-T-A
• gnomAD v3: 2-47482921-T-A
• gnomAD v4: 2-47482921-T-A
• MyVariant Identifiers: chr2:g.47710060T>A (hg19) ; chr2:g.47482921T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482921T>A , CM000664.2:g.47482921T>A	GRCh38
NC_000002.11:g.47710060T>A , CM000664.1:g.47710060T>A	GRCh37
NC_000002.10:g.47563564T>A	NCBI36
NG_007110.2:g.84798T>A , LRG_218:g.84798T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+2050T>A	ENSP00000495641.2:n.2634+2050T>A
ENST00000233146.7:c.2777T>A MANE Select	ENSP00000233146.2:p.Ile926Asn
ENST00000543555.6:c.2579T>A	ENSP00000442697.1:p.Ile860Asn
ENST00000644092.1:c.*934+2050T>A	ENSP00000496351.1:n.*934+2050T>A
ENST00000644900.1:c.487+2050T>A
ENST00000645339.1:c.2634+2050T>A	ENSP00000496441.1:n.2634+2050T>A
ENST00000645506.1:c.2634+2050T>A	ENSP00000495455.1:n.2634+2050T>A
ENST00000646415.1:c.2634+2050T>A	ENSP00000495543.1:n.2634+2050T>A
ENST00000233146.6:c.2777T>A	ENSP00000233146.2:p.Ile926Asn
ENST00000406134.5:c.2634+2050T>A	ENSP00000384199.1:n.2634+2050T>A
ENST00000461394.5:n.75+2050T>A
ENST00000543555.5:c.2579T>A	ENSP00000442697.1:p.Ile860Asn
ENST00000610696.4:c.*1173T>A	ENSP00000483159.1:n.*1173T>A
ENST00000613514.4:c.*1317T>A	ENSP00000484137.1:n.*1317T>A
ENST00000617333.3:c.*1543T>A	ENSP00000482468.1:n.*1543T>A
ENST00000617938.4:c.*1749T>A	ENSP00000481158.1:n.*1749T>A
ENST00000621359.2:c.*343T>A	ENSP00000481416.1:n.*343T>A
NM_000251.2:c.2777T>A , LRG_218t1:c.2777T>A	NP_000242.1:p.Ile926Asn
NM_001258281.1:c.2579T>A	NP_001245210.1:p.Ile860Asn
XM_005264332.2:c.2634+2050T>A	XP_005264389.2:n.2634+2050T>A
XM_011532867.1:c.2634+2050T>A	XP_011531169.1:n.2634+2050T>A
XR_939685.1:n.2706+2050T>A
XM_005264332.4:c.2634+2050T>A	XP_005264389.2:n.2634+2050T>A
XM_011532867.2:c.2634+2050T>A	XP_011531169.1:n.2634+2050T>A
XR_001738747.2:n.2696+2050T>A
XR_939685.2:n.2696+2050T>A
NM_000251.3:c.2777T>A MANE Select	NP_000242.1:p.Ile926Asn