Canonical Allele Identifier: CA2658946014
Gene: MSH2 HGNC NCBI

Linked Data

gnomAD v4: 2-47409979-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47409979A>T , CM000664.2:g.47409979A>T GRCh38
NC_000002.11:g.47637118A>T , CM000664.1:g.47637118A>T GRCh37
NC_000002.10:g.47490622A>T NCBI36
NG_007110.2:g.11856A>T , LRG_218:g.11856A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.367-115A>T ENSP00000495641.2:n.367-115A>T
ENST00000233146.7:c.367-115A>T MANE Select ENSP00000233146.2:n.367-115A>T
ENST00000543555.6:c.169-115A>T ENSP00000442697.1:n.169-115A>T
ENST00000644092.1:c.367-115A>T ENSP00000496351.1:n.367-115A>T
ENST00000645339.1:c.367-115A>T ENSP00000496441.1:n.367-115A>T
ENST00000645506.1:c.367-115A>T ENSP00000495455.1:n.367-115A>T
ENST00000646415.1:c.367-115A>T ENSP00000495543.1:n.367-115A>T
ENST00000233146.6:c.367-115A>T ENSP00000233146.2:n.367-115A>T
ENST00000406134.5:c.367-115A>T ENSP00000384199.1:n.367-115A>T
ENST00000454849.5:c.169-115A>T ENSP00000411482.1:n.169-115A>T
ENST00000543555.5:c.169-115A>T ENSP00000442697.1:n.169-115A>T
ENST00000610696.4:c.367-115A>T ENSP00000483159.1:n.367-115A>T
ENST00000613514.4:c.367-115A>T ENSP00000484137.1:n.367-115A>T
ENST00000617333.3:c.367-115A>T ENSP00000482468.1:n.367-115A>T
ENST00000617938.4:c.367-115A>T ENSP00000481158.1:n.367-115A>T
ENST00000621359.2:c.367-115A>T ENSP00000481416.1:n.367-115A>T
NM_000251.2:c.367-115A>T , LRG_218t1:c.367-115A>T NP_000242.1:n.367-115A>T
NM_001258281.1:c.169-115A>T NP_001245210.1:n.169-115A>T
XM_005264332.2:c.367-115A>T XP_005264389.2:n.367-115A>T
XM_011532867.1:c.367-115A>T XP_011531169.1:n.367-115A>T
XR_939685.1:n.439-115A>T
XM_005264332.4:c.367-115A>T XP_005264389.2:n.367-115A>T
XM_011532867.2:c.367-115A>T XP_011531169.1:n.367-115A>T
XR_001738747.2:n.429-115A>T
XR_939685.2:n.429-115A>T
NM_000251.3:c.367-115A>T MANE Select NP_000242.1:n.367-115A>T