Canonical Allele Identifier: CA426120166

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2100853
• ClinVar RCV Id: RCV003014618
• gnomAD v4: 2-47476431-A-G
• MyVariant Identifiers: chr2:g.47703570A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476431A>G , CM000664.2:g.47476431A>G	GRCh38
NC_000002.11:g.47703570A>G , CM000664.1:g.47703570A>G	GRCh37
NC_000002.10:g.47557074A>G	NCBI36
NG_007110.2:g.78308A>G , LRG_218:g.78308A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2070A>G	ENSP00000495641.2:p.Gln690=
ENST00000233146.7:c.2070A>G MANE Select	ENSP00000233146.2:p.Gln690=
ENST00000543555.6:c.1872A>G	ENSP00000442697.1:p.Gln624=
ENST00000644092.1:c.*370A>G	ENSP00000496351.1:n.*370A>G
ENST00000645339.1:c.2070A>G	ENSP00000496441.1:p.Gln690=
ENST00000645506.1:c.2070A>G	ENSP00000495455.1:p.Gln690=
ENST00000646415.1:c.2070A>G	ENSP00000495543.1:p.Gln690=
ENST00000233146.6:c.2070A>G	ENSP00000233146.2:p.Gln690=
ENST00000406134.5:c.2070A>G	ENSP00000384199.1:p.Gln690=
ENST00000543555.5:c.1872A>G	ENSP00000442697.1:p.Gln624=
ENST00000610696.4:c.*466A>G	ENSP00000483159.1:n.*466A>G
ENST00000613514.4:c.*610A>G	ENSP00000484137.1:n.*610A>G
ENST00000617333.3:c.*836A>G	ENSP00000482468.1:n.*836A>G
ENST00000617938.4:c.*1042A>G	ENSP00000481158.1:n.*1042A>G
ENST00000621359.2:c.2070A>G	ENSP00000481416.1:p.Gln690=
NM_000251.2:c.2070A>G , LRG_218t1:c.2070A>G	NP_000242.1:p.Gln690=
NM_001258281.1:c.1872A>G	NP_001245210.1:p.Gln624=
XM_005264332.2:c.2070A>G	XP_005264389.2:p.Gln690=
XM_011532867.1:c.2070A>G	XP_011531169.1:p.Gln690=
XR_939685.1:n.2142A>G
XM_005264332.4:c.2070A>G	XP_005264389.2:p.Gln690=
XM_011532867.2:c.2070A>G	XP_011531169.1:p.Gln690=
XR_001738747.2:n.2132A>G
XR_939685.2:n.2132A>G
NM_000251.3:c.2070A>G MANE Select	NP_000242.1:p.Gln690=