Canonical Allele Identifier: CA3273129103
Community Standard Title: NM_000251.3(MSH2):c.2026_2027delinsCT (p.Ser676Leu)
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47476387_47476388delinsCT , CM000664.2:g.47476387_47476388delinsCT GRCh38
NC_000002.11:g.47703526_47703527delinsCT , CM000664.1:g.47703526_47703527delinsCT GRCh37
NC_000002.10:g.47557030_47557031delinsCT NCBI36
NG_007110.2:g.78264_78265delinsCT , LRG_218:g.78264_78265delinsCT

Transcript Alleles

HGVS Amino-acid Change
NM_000251.3:c.2026_2027delinsCT MANE Select NP_000242.1:p.Ser676Leu
ENST00000233146.7:c.2026_2027delinsCT MANE Select ENSP00000233146.2:p.Ser676Leu
NM_000251.2:c.2026_2027delinsCT , LRG_218t1:c.2026_2027delinsCT NP_000242.1:p.Ser676Leu
NM_001258281.1:c.1828_1829delinsCT NP_001245210.1:p.Ser610Leu
ENST00000233146.6:c.2026_2027delinsCT ENSP00000233146.2:p.Ser676Leu
ENST00000406134.5:c.2026_2027delinsCT ENSP00000384199.1:p.Ser676Leu
ENST00000543555.5:c.1828_1829delinsCT ENSP00000442697.1:p.Ser610Leu
ENST00000543555.6:c.1828_1829delinsCT ENSP00000442697.1:p.Ser610Leu
ENST00000610696.4:c.*422_*423delinsCT ENSP00000483159.1:n.*422_*423delinsCT
ENST00000613514.4:c.*566_*567delinsCT ENSP00000484137.1:n.*566_*567delinsCT
ENST00000617333.3:c.*792_*793delinsCT ENSP00000482468.1:n.*792_*793delinsCT
ENST00000617938.4:c.*998_*999delinsCT ENSP00000481158.1:n.*998_*999delinsCT
ENST00000621359.2:c.2026_2027delinsCT ENSP00000481416.1:p.Ser676Leu
ENST00000644092.1:c.*326_*327delinsCT ENSP00000496351.1:n.*326_*327delinsCT
ENST00000644900.2:c.2026_2027delinsCT ENSP00000495641.2:p.Ser676Leu
ENST00000645339.1:c.2026_2027delinsCT ENSP00000496441.1:p.Ser676Leu
ENST00000645506.1:c.2026_2027delinsCT ENSP00000495455.1:p.Ser676Leu
ENST00000646415.1:c.2026_2027delinsCT ENSP00000495543.1:p.Ser676Leu
XM_005264332.2:c.2026_2027delinsCT XP_005264389.2:p.Ser676Leu
XM_005264332.4:c.2026_2027delinsCT XP_005264389.2:p.Ser676Leu
XM_011532867.1:c.2026_2027delinsCT XP_011531169.1:p.Ser676Leu
XM_011532867.2:c.2026_2027delinsCT XP_011531169.1:p.Ser676Leu
XR_001738747.2:n.2088_2089delinsCT
XR_939685.1:n.2098_2099delinsCT
XR_939685.2:n.2088_2089delinsCT