Canonical Allele Identifier: CA2495877470

Gene: MSH2

Linked Data

• dbSNP Id: rs1667590106
• gnomAD v4: 2-47483064-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47483064T>A , CM000664.2:g.47483064T>A	GRCh38
NC_000002.11:g.47710203T>A , CM000664.1:g.47710203T>A	GRCh37
NC_000002.10:g.47563707T>A	NCBI36
NG_007110.2:g.84941T>A , LRG_218:g.84941T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+2193T>A	ENSP00000495641.2:n.2634+2193T>A
ENST00000233146.7:c.*115T>A MANE Select	ENSP00000233146.2:n.*115T>A
ENST00000543555.6:c.*115T>A	ENSP00000442697.1:n.*115T>A
ENST00000644092.1:c.*934+2193T>A	ENSP00000496351.1:n.*934+2193T>A
ENST00000644900.1:c.487+2193T>A
ENST00000645339.1:c.2634+2193T>A	ENSP00000496441.1:n.2634+2193T>A
ENST00000645506.1:c.2634+2193T>A	ENSP00000495455.1:n.2634+2193T>A
ENST00000646415.1:c.2634+2193T>A	ENSP00000495543.1:n.2634+2193T>A
ENST00000233146.6:c.*115T>A	ENSP00000233146.2:n.*115T>A
ENST00000406134.5:c.2634+2193T>A	ENSP00000384199.1:n.2634+2193T>A
ENST00000461394.5:n.75+2193T>A
ENST00000543555.5:c.*115T>A	ENSP00000442697.1:n.*115T>A
NM_000251.2:c.*115T>A , LRG_218t1:c.*115T>A	NP_000242.1:n.*115T>A
NM_001258281.1:c.*115T>A	NP_001245210.1:n.*115T>A
XM_005264332.2:c.2634+2193T>A	XP_005264389.2:n.2634+2193T>A
XM_011532867.1:c.2634+2193T>A	XP_011531169.1:n.2634+2193T>A
XR_939685.1:n.2706+2193T>A
XM_005264332.4:c.2634+2193T>A	XP_005264389.2:n.2634+2193T>A
XM_011532867.2:c.2634+2193T>A	XP_011531169.1:n.2634+2193T>A
XR_001738747.2:n.2696+2193T>A
XR_939685.2:n.2696+2193T>A
NM_000251.3:c.*115T>A MANE Select	NP_000242.1:n.*115T>A