Canonical Allele Identifier: CA2831039079
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47410176_47410181delinsCGGACATTT , CM000664.2:g.47410176_47410181delinsCGGACATTT GRCh38
NC_000002.11:g.47637315_47637320delinsCGGACATTT , CM000664.1:g.47637315_47637320delinsCGGACATTT GRCh37
NC_000002.10:g.47490819_47490824delinsCGGACATTT NCBI36
NG_007110.2:g.12053_12058delinsCGGACATTT , LRG_218:g.12053_12058delinsCGGACATTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.449_454delinsCGGACATTT ENSP00000495641.2:p.Val150_Met152delinsAlaAspIleLeu
ENST00000233146.7:c.449_454delinsCGGACATTT MANE Select ENSP00000233146.2:p.Val150_Met152delinsAlaAspIleLeu
ENST00000543555.6:c.251_256delinsCGGACATTT ENSP00000442697.1:p.Val84_Met86delinsAlaAspIleLeu
ENST00000644092.1:c.449_454delinsCGGACATTT ENSP00000496351.1:p.Val150_Met152delinsAlaAspIleLeu
ENST00000645339.1:c.449_454delinsCGGACATTT ENSP00000496441.1:p.Val150_Met152delinsAlaAspIleLeu
ENST00000645506.1:c.449_454delinsCGGACATTT ENSP00000495455.1:p.Val150_Met152delinsAlaAspIleLeu
ENST00000646415.1:c.449_454delinsCGGACATTT ENSP00000495543.1:p.Val150_Met152delinsAlaAspIleLeu
ENST00000233146.6:c.449_454delinsCGGACATTT ENSP00000233146.2:p.Val150_Met152delinsAlaAspIleLeu
ENST00000406134.5:c.449_454delinsCGGACATTT ENSP00000384199.1:p.Val150_Met152delinsAlaAspIleLeu
ENST00000454849.5:c.251_256delinsCGGACATTT ENSP00000411482.1:p.Val84_Met86delinsAlaAspIleLeu
ENST00000543555.5:c.251_256delinsCGGACATTT ENSP00000442697.1:p.Val84_Met86delinsAlaAspIleLeu
ENST00000610696.4:c.449_454delinsCGGACATTT ENSP00000483159.1:p.Val150_Met152delinsAlaAspIleLeu
ENST00000613514.4:c.449_454delinsCGGACATTT ENSP00000484137.1:p.Val150_Met152delinsAlaAspIleLeu
ENST00000617333.3:c.449_454delinsCGGACATTT ENSP00000482468.1:p.Val150_Met152delinsAlaAspIleLeu
ENST00000617938.4:c.449_454delinsCGGACATTT ENSP00000481158.1:p.Val150_Met152delinsAlaAspIleLeu
ENST00000621359.2:c.449_454delinsCGGACATTT ENSP00000481416.1:p.Val150_Met152delinsAlaAspIleLeu
NM_000251.2:c.449_454delinsCGGACATTT , LRG_218t1:c.449_454delinsCGGACATTT NP_000242.1:p.Val150_Met152delinsAlaAspIleLeu
NM_001258281.1:c.251_256delinsCGGACATTT NP_001245210.1:p.Val84_Met86delinsAlaAspIleLeu
XM_005264332.2:c.449_454delinsCGGACATTT XP_005264389.2:p.Val150_Met152delinsAlaAspIleLeu
XM_011532867.1:c.449_454delinsCGGACATTT XP_011531169.1:p.Val150_Met152delinsAlaAspIleLeu
XR_939685.1:n.521_526delinsCGGACATTT
XM_005264332.4:c.449_454delinsCGGACATTT XP_005264389.2:p.Val150_Met152delinsAlaAspIleLeu
XM_011532867.2:c.449_454delinsCGGACATTT XP_011531169.1:p.Val150_Met152delinsAlaAspIleLeu
XR_001738747.2:n.511_516delinsCGGACATTT
XR_939685.2:n.511_516delinsCGGACATTT
NM_000251.3:c.449_454delinsCGGACATTT MANE Select NP_000242.1:p.Val150_Met152delinsAlaAspIleLeu