Canonical Allele Identifier: CA348161470

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121736055T>C (hg19) ; chr2:g.120978479T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978479T>C , CM000664.2:g.120978479T>C	GRCh38
NC_000002.11:g.121736055T>C , CM000664.1:g.121736055T>C	GRCh37
NC_000002.10:g.121452525T>C	NCBI36
NG_009030.1:g.186189T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1363T>C MANE Select	ENSP00000354586.5:p.Cys455Arg
ENST00000452319.6:c.1414T>C	ENSP00000390436.1:p.Cys472Arg
ENST00000314490.15:c.427T>C	ENSP00000312694.12:p.Cys143Arg
ENST00000341310.10:c.*462T>C	ENSP00000344473.6:n.*462T>C
ENST00000361492.8:c.1414T>C	ENSP00000354586.4:p.Cys472Arg
ENST00000435313.6:n.1388T>C
ENST00000437950.5:c.*513T>C	ENSP00000415773.1:n.*513T>C
ENST00000438299.5:c.*513T>C	ENSP00000400593.1:n.*513T>C
ENST00000445186.5:c.*513T>C	ENSP00000397488.1:n.*513T>C
ENST00000452319.5:c.1414T>C	ENSP00000390436.1:p.Cys472Arg
ENST00000452692.5:c.*462T>C	ENSP00000403715.1:n.*462T>C
NM_005270.4:c.1414T>C	NP_005261.2:p.Cys472Arg
XM_006712422.1:c.1363T>C	XP_006712485.1:p.Cys455Arg
XM_011510969.1:c.1396T>C	XP_011509271.1:p.Cys466Arg
XM_011510970.1:c.1273T>C	XP_011509272.1:p.Cys425Arg
XM_011510971.1:c.1219T>C	XP_011509273.1:p.Cys407Arg
XM_011510972.1:c.1219T>C	XP_011509274.1:p.Cys407Arg
XM_011510973.1:c.1039T>C	XP_011509275.1:p.Cys347Arg
XM_011510974.1:c.988T>C	XP_011509276.1:p.Cys330Arg
XM_006712422.3:c.1363T>C	XP_006712485.1:p.Cys455Arg
XM_011510969.2:c.1666T>C	XP_011509271.2:p.Cys556Arg
XM_011510970.2:c.1273T>C	XP_011509272.1:p.Cys425Arg
XM_011510971.2:c.1219T>C	XP_011509273.1:p.Cys407Arg
XM_011510972.2:c.1315T>C	XP_011509274.2:p.Cys439Arg
XM_011510973.2:c.1039T>C	XP_011509275.1:p.Cys347Arg
XM_011510974.2:c.988T>C	XP_011509276.1:p.Cys330Arg
XM_017003818.1:c.1615T>C	XP_016859307.1:p.Cys539Arg
XM_024452794.1:c.1414T>C	XP_024308562.1:p.Cys472Arg
XM_024452795.1:c.1414T>C	XP_024308563.1:p.Cys472Arg
NM_001371271.1:c.1414T>C	NP_001358200.1:p.Cys472Arg
NM_001374353.1:c.1363T>C MANE Select	NP_001361282.1:p.Cys455Arg
NM_001374354.1:c.988T>C	NP_001361283.1:p.Cys330Arg
NM_005270.5:c.1414T>C	NP_005261.2:p.Cys472Arg