Canonical Allele Identifier: CA3273151128
Community Standard Title: NM_000251.3(MSH2):c.1864_1866delinsTTG (p.Pro622Leu)
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475129_47475131delinsTTG , CM000664.2:g.47475129_47475131delinsTTG GRCh38
NC_000002.11:g.47702268_47702270delinsTTG , CM000664.1:g.47702268_47702270delinsTTG GRCh37
NC_000002.10:g.47555772_47555774delinsTTG NCBI36
NG_007110.2:g.77006_77008delinsTTG , LRG_218:g.77006_77008delinsTTG

Transcript Alleles

HGVS Amino-acid Change
NM_000251.3:c.1864_1866delinsTTG MANE Select NP_000242.1:p.Pro622Leu
ENST00000233146.7:c.1864_1866delinsTTG MANE Select ENSP00000233146.2:p.Pro622Leu
NM_000251.2:c.1864_1866delinsTTG , LRG_218t1:c.1864_1866delinsTTG NP_000242.1:p.Pro622Leu
NM_001258281.1:c.1666_1668delinsTTG NP_001245210.1:p.Pro556Leu
ENST00000233146.6:c.1864_1866delinsTTG ENSP00000233146.2:p.Pro622Leu
ENST00000406134.5:c.1864_1866delinsTTG ENSP00000384199.1:p.Pro622Leu
ENST00000543555.5:c.1666_1668delinsTTG ENSP00000442697.1:p.Pro556Leu
ENST00000543555.6:c.1666_1668delinsTTG ENSP00000442697.1:p.Pro556Leu
ENST00000610696.4:c.*260_*262delinsTTG ENSP00000483159.1:n.*260_*262delinsTTG
ENST00000613514.4:c.*404_*406delinsTTG ENSP00000484137.1:n.*404_*406delinsTTG
ENST00000617333.3:c.*630_*632delinsTTG ENSP00000482468.1:n.*630_*632delinsTTG
ENST00000617938.4:c.*836_*838delinsTTG ENSP00000481158.1:n.*836_*838delinsTTG
ENST00000621359.2:c.1864_1866delinsTTG ENSP00000481416.1:p.Pro622Leu
ENST00000644092.1:c.*164_*166delinsTTG ENSP00000496351.1:n.*164_*166delinsTTG
ENST00000644900.2:c.1864_1866delinsTTG ENSP00000495641.2:p.Pro622Leu
ENST00000645339.1:c.1864_1866delinsTTG ENSP00000496441.1:p.Pro622Leu
ENST00000645506.1:c.1864_1866delinsTTG ENSP00000495455.1:p.Pro622Leu
ENST00000646415.1:c.1864_1866delinsTTG ENSP00000495543.1:p.Pro622Leu
XM_005264332.2:c.1864_1866delinsTTG XP_005264389.2:p.Pro622Leu
XM_005264332.4:c.1864_1866delinsTTG XP_005264389.2:p.Pro622Leu
XM_011532867.1:c.1864_1866delinsTTG XP_011531169.1:p.Pro622Leu
XM_011532867.2:c.1864_1866delinsTTG XP_011531169.1:p.Pro622Leu
XR_001738747.2:n.1926_1928delinsTTG
XR_939685.1:n.1936_1938delinsTTG
XR_939685.2:n.1926_1928delinsTTG