Canonical Allele Identifier: CA348161457

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121736049T>C (hg19) ; chr2:g.120978473T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978473T>C , CM000664.2:g.120978473T>C	GRCh38
NC_000002.11:g.121736049T>C , CM000664.1:g.121736049T>C	GRCh37
NC_000002.10:g.121452519T>C	NCBI36
NG_009030.1:g.186183T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1357T>C MANE Select	ENSP00000354586.5:p.Phe453Leu
ENST00000452319.6:c.1408T>C	ENSP00000390436.1:p.Phe470Leu
ENST00000314490.15:c.421T>C	ENSP00000312694.12:p.Phe141Leu
ENST00000341310.10:c.*456T>C	ENSP00000344473.6:n.*456T>C
ENST00000361492.8:c.1408T>C	ENSP00000354586.4:p.Phe470Leu
ENST00000435313.6:n.1382T>C
ENST00000437950.5:c.*507T>C	ENSP00000415773.1:n.*507T>C
ENST00000438299.5:c.*507T>C	ENSP00000400593.1:n.*507T>C
ENST00000445186.5:c.*507T>C	ENSP00000397488.1:n.*507T>C
ENST00000452319.5:c.1408T>C	ENSP00000390436.1:p.Phe470Leu
ENST00000452692.5:c.*456T>C	ENSP00000403715.1:n.*456T>C
NM_005270.4:c.1408T>C	NP_005261.2:p.Phe470Leu
XM_006712422.1:c.1357T>C	XP_006712485.1:p.Phe453Leu
XM_011510969.1:c.1390T>C	XP_011509271.1:p.Phe464Leu
XM_011510970.1:c.1267T>C	XP_011509272.1:p.Phe423Leu
XM_011510971.1:c.1213T>C	XP_011509273.1:p.Phe405Leu
XM_011510972.1:c.1213T>C	XP_011509274.1:p.Phe405Leu
XM_011510973.1:c.1033T>C	XP_011509275.1:p.Phe345Leu
XM_011510974.1:c.982T>C	XP_011509276.1:p.Phe328Leu
XM_006712422.3:c.1357T>C	XP_006712485.1:p.Phe453Leu
XM_011510969.2:c.1660T>C	XP_011509271.2:p.Phe554Leu
XM_011510970.2:c.1267T>C	XP_011509272.1:p.Phe423Leu
XM_011510971.2:c.1213T>C	XP_011509273.1:p.Phe405Leu
XM_011510972.2:c.1309T>C	XP_011509274.2:p.Phe437Leu
XM_011510973.2:c.1033T>C	XP_011509275.1:p.Phe345Leu
XM_011510974.2:c.982T>C	XP_011509276.1:p.Phe328Leu
XM_017003818.1:c.1609T>C	XP_016859307.1:p.Phe537Leu
XM_024452794.1:c.1408T>C	XP_024308562.1:p.Phe470Leu
XM_024452795.1:c.1408T>C	XP_024308563.1:p.Phe470Leu
NM_001371271.1:c.1408T>C	NP_001358200.1:p.Phe470Leu
NM_001374353.1:c.1357T>C MANE Select	NP_001361282.1:p.Phe453Leu
NM_001374354.1:c.982T>C	NP_001361283.1:p.Phe328Leu
NM_005270.5:c.1408T>C	NP_005261.2:p.Phe470Leu