Canonical Allele Identifier: CA1851771
Community Standard Title: NM_001374353.1(GLI2):c.1083C>T (p.Ala361=)
Gene: GLI2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120971964C>T , CM000664.2:g.120971964C>T GRCh38
NC_000002.11:g.121729540C>T , CM000664.1:g.121729540C>T GRCh37
NC_000002.10:g.121446010C>T NCBI36
NG_009030.1:g.179674C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001374353.1:c.1083C>T MANE Select NP_001361282.1:p.Ala361=
ENST00000361492.9:c.1083C>T MANE Select ENSP00000354586.5:p.Ala361=
NM_001371271.1:c.1083C>T NP_001358200.1:p.Ala361=
NM_001374354.1:c.708C>T NP_001361283.1:p.Ala236=
NM_005270.4:c.1083C>T NP_005261.2:p.Ala361=
NM_005270.5:c.1083C>T NP_005261.2:p.Ala361=
ENST00000314490.15:c.99C>T ENSP00000312694.12:p.Ala33=
ENST00000341310.10:c.*182C>T ENSP00000344473.6:n.*182C>T
ENST00000361492.8:c.1083C>T ENSP00000354586.4:p.Ala361=
ENST00000433812.1:c.953C>T ENSP00000402383.1:n.953C>T
ENST00000435313.6:n.1108C>T
ENST00000437950.5:c.*182C>T ENSP00000415773.1:n.*182C>T
ENST00000438299.5:c.*182C>T ENSP00000400593.1:n.*182C>T
ENST00000445186.5:c.*182C>T ENSP00000397488.1:n.*182C>T
ENST00000452319.5:c.1083C>T ENSP00000390436.1:p.Ala361=
ENST00000452319.6:c.1083C>T ENSP00000390436.1:p.Ala361=
ENST00000452692.5:c.*182C>T ENSP00000403715.1:n.*182C>T
XM_006712422.1:c.1083C>T XP_006712485.1:p.Ala361=
XM_006712422.3:c.1083C>T XP_006712485.1:p.Ala361=
XM_011510969.1:c.1065C>T XP_011509271.1:p.Ala355=
XM_011510969.2:c.1335C>T XP_011509271.2:p.Ala445=
XM_011510970.1:c.942C>T XP_011509272.1:p.Ala314=
XM_011510970.2:c.942C>T XP_011509272.1:p.Ala314=
XM_011510971.1:c.888C>T XP_011509273.1:p.Ala296=
XM_011510971.2:c.888C>T XP_011509273.1:p.Ala296=
XM_011510972.1:c.888C>T XP_011509274.1:p.Ala296=
XM_011510972.2:c.984C>T XP_011509274.2:p.Ala328=
XM_011510973.1:c.708C>T XP_011509275.1:p.Ala236=
XM_011510973.2:c.708C>T XP_011509275.1:p.Ala236=
XM_011510974.1:c.708C>T XP_011509276.1:p.Ala236=
XM_011510974.2:c.708C>T XP_011509276.1:p.Ala236=
XM_017003818.1:c.1335C>T XP_016859307.1:p.Ala445=
XM_024452794.1:c.1083C>T XP_024308562.1:p.Ala361=
XM_024452795.1:c.1083C>T XP_024308563.1:p.Ala361=