Canonical Allele Identifier: CA3273129224
Community Standard Title: NM_000251.3(MSH2):c.2027_2028delinsTG (p.Ser676Leu)
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47476388_47476389delinsTG , CM000664.2:g.47476388_47476389delinsTG GRCh38
NC_000002.11:g.47703527_47703528delinsTG , CM000664.1:g.47703527_47703528delinsTG GRCh37
NC_000002.10:g.47557031_47557032delinsTG NCBI36
NG_007110.2:g.78265_78266delinsTG , LRG_218:g.78265_78266delinsTG

Transcript Alleles

HGVS Amino-acid Change
NM_000251.3:c.2027_2028delinsTG MANE Select NP_000242.1:p.Ser676Leu
ENST00000233146.7:c.2027_2028delinsTG MANE Select ENSP00000233146.2:p.Ser676Leu
NM_000251.2:c.2027_2028delinsTG , LRG_218t1:c.2027_2028delinsTG NP_000242.1:p.Ser676Leu
NM_001258281.1:c.1829_1830delinsTG NP_001245210.1:p.Ser610Leu
ENST00000233146.6:c.2027_2028delinsTG ENSP00000233146.2:p.Ser676Leu
ENST00000406134.5:c.2027_2028delinsTG ENSP00000384199.1:p.Ser676Leu
ENST00000543555.5:c.1829_1830delinsTG ENSP00000442697.1:p.Ser610Leu
ENST00000543555.6:c.1829_1830delinsTG ENSP00000442697.1:p.Ser610Leu
ENST00000610696.4:c.*423_*424delinsTG ENSP00000483159.1:n.*423_*424delinsTG
ENST00000613514.4:c.*567_*568delinsTG ENSP00000484137.1:n.*567_*568delinsTG
ENST00000617333.3:c.*793_*794delinsTG ENSP00000482468.1:n.*793_*794delinsTG
ENST00000617938.4:c.*999_*1000delinsTG ENSP00000481158.1:n.*999_*1000delinsTG
ENST00000621359.2:c.2027_2028delinsTG ENSP00000481416.1:p.Ser676Leu
ENST00000644092.1:c.*327_*328delinsTG ENSP00000496351.1:n.*327_*328delinsTG
ENST00000644900.2:c.2027_2028delinsTG ENSP00000495641.2:p.Ser676Leu
ENST00000645339.1:c.2027_2028delinsTG ENSP00000496441.1:p.Ser676Leu
ENST00000645506.1:c.2027_2028delinsTG ENSP00000495455.1:p.Ser676Leu
ENST00000646415.1:c.2027_2028delinsTG ENSP00000495543.1:p.Ser676Leu
XM_005264332.2:c.2027_2028delinsTG XP_005264389.2:p.Ser676Leu
XM_005264332.4:c.2027_2028delinsTG XP_005264389.2:p.Ser676Leu
XM_011532867.1:c.2027_2028delinsTG XP_011531169.1:p.Ser676Leu
XM_011532867.2:c.2027_2028delinsTG XP_011531169.1:p.Ser676Leu
XR_001738747.2:n.2089_2090delinsTG
XR_939685.1:n.2099_2100delinsTG
XR_939685.2:n.2089_2090delinsTG