Canonical Allele Identifier: CA428229918

Gene: GLI2

Linked Data

• dbSNP Id: rs1682565669
• gnomAD v4: 2-120978475-T-C
• MyVariant Identifiers: chr2:g.121736051T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978475T>C , CM000664.2:g.120978475T>C	GRCh38
NC_000002.11:g.121736051T>C , CM000664.1:g.121736051T>C	GRCh37
NC_000002.10:g.121452521T>C	NCBI36
NG_009030.1:g.186185T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1359T>C MANE Select	ENSP00000354586.5:p.Phe453=
ENST00000452319.6:c.1410T>C	ENSP00000390436.1:p.Phe470=
ENST00000314490.15:c.423T>C	ENSP00000312694.12:p.Phe141=
ENST00000341310.10:c.*458T>C	ENSP00000344473.6:n.*458T>C
ENST00000361492.8:c.1410T>C	ENSP00000354586.4:p.Phe470=
ENST00000435313.6:n.1384T>C
ENST00000437950.5:c.*509T>C	ENSP00000415773.1:n.*509T>C
ENST00000438299.5:c.*509T>C	ENSP00000400593.1:n.*509T>C
ENST00000445186.5:c.*509T>C	ENSP00000397488.1:n.*509T>C
ENST00000452319.5:c.1410T>C	ENSP00000390436.1:p.Phe470=
ENST00000452692.5:c.*458T>C	ENSP00000403715.1:n.*458T>C
NM_005270.4:c.1410T>C	NP_005261.2:p.Phe470=
XM_006712422.1:c.1359T>C	XP_006712485.1:p.Phe453=
XM_011510969.1:c.1392T>C	XP_011509271.1:p.Phe464=
XM_011510970.1:c.1269T>C	XP_011509272.1:p.Phe423=
XM_011510971.1:c.1215T>C	XP_011509273.1:p.Phe405=
XM_011510972.1:c.1215T>C	XP_011509274.1:p.Phe405=
XM_011510973.1:c.1035T>C	XP_011509275.1:p.Phe345=
XM_011510974.1:c.984T>C	XP_011509276.1:p.Phe328=
XM_006712422.3:c.1359T>C	XP_006712485.1:p.Phe453=
XM_011510969.2:c.1662T>C	XP_011509271.2:p.Phe554=
XM_011510970.2:c.1269T>C	XP_011509272.1:p.Phe423=
XM_011510971.2:c.1215T>C	XP_011509273.1:p.Phe405=
XM_011510972.2:c.1311T>C	XP_011509274.2:p.Phe437=
XM_011510973.2:c.1035T>C	XP_011509275.1:p.Phe345=
XM_011510974.2:c.984T>C	XP_011509276.1:p.Phe328=
XM_017003818.1:c.1611T>C	XP_016859307.1:p.Phe537=
XM_024452794.1:c.1410T>C	XP_024308562.1:p.Phe470=
XM_024452795.1:c.1410T>C	XP_024308563.1:p.Phe470=
NM_001371271.1:c.1410T>C	NP_001358200.1:p.Phe470=
NM_001374353.1:c.1359T>C MANE Select	NP_001361282.1:p.Phe453=
NM_001374354.1:c.984T>C	NP_001361283.1:p.Phe328=
NM_005270.5:c.1410T>C	NP_005261.2:p.Phe470=