Canonical Allele Identifier: CA2495872423
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475073_47475074delinsAT , CM000664.2:g.47475073_47475074delinsAT GRCh38
NC_000002.11:g.47702212_47702213delinsAT , CM000664.1:g.47702212_47702213delinsAT GRCh37
NC_000002.10:g.47555716_47555717delinsAT NCBI36
NG_007110.2:g.76950_76951delinsAT , LRG_218:g.76950_76951delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1808_1809delinsAT ENSP00000495641.2:p.Asp603=
ENST00000233146.7:c.1808_1809delinsAT MANE Select ENSP00000233146.2:p.Asp603=
ENST00000543555.6:c.1610_1611delinsAT ENSP00000442697.1:p.Asp537=
ENST00000644092.1:c.*108_*109delinsAT ENSP00000496351.1:n.*108_*109delinsAT
ENST00000645339.1:c.1808_1809delinsAT ENSP00000496441.1:p.Asp603=
ENST00000645506.1:c.1808_1809delinsAT ENSP00000495455.1:p.Asp603=
ENST00000646415.1:c.1808_1809delinsAT ENSP00000495543.1:p.Asp603=
ENST00000233146.6:c.1808_1809delinsAT ENSP00000233146.2:p.Asp603=
ENST00000406134.5:c.1808_1809delinsAT ENSP00000384199.1:p.Asp603=
ENST00000543555.5:c.1610_1611delinsAT ENSP00000442697.1:p.Asp537=
ENST00000610696.4:c.*204_*205delinsAT ENSP00000483159.1:n.*204_*205delinsAT
ENST00000613514.4:c.*348_*349delinsAT ENSP00000484137.1:n.*348_*349delinsAT
ENST00000617333.3:c.*574_*575delinsAT ENSP00000482468.1:n.*574_*575delinsAT
ENST00000617938.4:c.*780_*781delinsAT ENSP00000481158.1:n.*780_*781delinsAT
ENST00000621359.2:c.1808_1809delinsAT ENSP00000481416.1:p.Asp603=
NM_000251.2:c.1808_1809delinsAT , LRG_218t1:c.1808_1809delinsAT NP_000242.1:p.Asp603=
NM_001258281.1:c.1610_1611delinsAT NP_001245210.1:p.Asp537=
XM_005264332.2:c.1808_1809delinsAT XP_005264389.2:p.Asp603=
XM_011532867.1:c.1808_1809delinsAT XP_011531169.1:p.Asp603=
XR_939685.1:n.1880_1881delinsAT
XM_005264332.4:c.1808_1809delinsAT XP_005264389.2:p.Asp603=
XM_011532867.2:c.1808_1809delinsAT XP_011531169.1:p.Asp603=
XR_001738747.2:n.1870_1871delinsAT
XR_939685.2:n.1870_1871delinsAT
NM_000251.3:c.1808_1809delinsAT MANE Select NP_000242.1:p.Asp603=