Canonical Allele Identifier: CA2495872648
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475309_47475312delinsTTTG , CM000664.2:g.47475309_47475312delinsTTTG GRCh38
NC_000002.11:g.47702448_47702451delinsTTTG , CM000664.1:g.47702448_47702451delinsTTTG GRCh37
NC_000002.10:g.47555952_47555955delinsTTTG NCBI36
NG_007110.2:g.77186_77189delinsTTTG , LRG_218:g.77186_77189delinsTTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2005+39_2005+42delinsTTTG ENSP00000495641.2:n.2005+39_2005+42delinsTTTG
ENST00000233146.7:c.2005+39_2005+42delinsTTTG MANE Select ENSP00000233146.2:n.2005+39_2005+42delinsTTTG
ENST00000543555.6:c.1807+39_1807+42delinsTTTG ENSP00000442697.1:n.1807+39_1807+42delinsTTTG
ENST00000644092.1:c.*305+39_*305+42delinsTTTG ENSP00000496351.1:n.*305+39_*305+42delinsTTTG
ENST00000645339.1:c.2005+39_2005+42delinsTTTG ENSP00000496441.1:n.2005+39_2005+42delinsTTTG
ENST00000645506.1:c.2005+39_2005+42delinsTTTG ENSP00000495455.1:n.2005+39_2005+42delinsTTTG
ENST00000646415.1:c.2005+39_2005+42delinsTTTG ENSP00000495543.1:n.2005+39_2005+42delinsTTTG
ENST00000233146.6:c.2005+39_2005+42delinsTTTG ENSP00000233146.2:n.2005+39_2005+42delinsTTTG
ENST00000406134.5:c.2005+39_2005+42delinsTTTG ENSP00000384199.1:n.2005+39_2005+42delinsTTTG
ENST00000543555.5:c.1807+39_1807+42delinsTTTG ENSP00000442697.1:n.1807+39_1807+42delinsTTTG
ENST00000610696.4:c.*401+39_*401+42delinsTTTG ENSP00000483159.1:n.*401+39_*401+42delinsTTTG
ENST00000613514.4:c.*545+39_*545+42delinsTTTG ENSP00000484137.1:n.*545+39_*545+42delinsTTTG
ENST00000617333.3:c.*771+39_*771+42delinsTTTG ENSP00000482468.1:n.*771+39_*771+42delinsTTTG
ENST00000617938.4:c.*977+39_*977+42delinsTTTG ENSP00000481158.1:n.*977+39_*977+42delinsTTTG
ENST00000621359.2:c.2005+39_2005+42delinsTTTG ENSP00000481416.1:n.2005+39_2005+42delinsTTTG
NM_000251.2:c.2005+39_2005+42delinsTTTG , LRG_218t1:c.2005+39_2005+42delinsTTTG NP_000242.1:n.2005+39_2005+42delinsTTTG
NM_001258281.1:c.1807+39_1807+42delinsTTTG NP_001245210.1:n.1807+39_1807+42delinsTTTG
XM_005264332.2:c.2005+39_2005+42delinsTTTG XP_005264389.2:n.2005+39_2005+42delinsTTTG
XM_011532867.1:c.2005+39_2005+42delinsTTTG XP_011531169.1:n.2005+39_2005+42delinsTTTG
XR_939685.1:n.2077+39_2077+42delinsTTTG
XM_005264332.4:c.2005+39_2005+42delinsTTTG XP_005264389.2:n.2005+39_2005+42delinsTTTG
XM_011532867.2:c.2005+39_2005+42delinsTTTG XP_011531169.1:n.2005+39_2005+42delinsTTTG
XR_001738747.2:n.2067+39_2067+42delinsTTTG
XR_939685.2:n.2067+39_2067+42delinsTTTG
NM_000251.3:c.2005+39_2005+42delinsTTTG MANE Select NP_000242.1:n.2005+39_2005+42delinsTTTG