Canonical Allele Identifier: CA348161655

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121736140A>C (hg19) ; chr2:g.120978564A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978564A>C , CM000664.2:g.120978564A>C	GRCh38
NC_000002.11:g.121736140A>C , CM000664.1:g.121736140A>C	GRCh37
NC_000002.10:g.121452610A>C	NCBI36
NG_009030.1:g.186274A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1448A>C MANE Select	ENSP00000354586.5:p.Glu483Ala
ENST00000452319.6:c.1499A>C	ENSP00000390436.1:p.Glu500Ala
ENST00000314490.15:c.512A>C	ENSP00000312694.12:p.Glu171Ala
ENST00000341310.10:c.*547A>C	ENSP00000344473.6:n.*547A>C
ENST00000361492.8:c.1499A>C	ENSP00000354586.4:p.Glu500Ala
ENST00000435313.6:n.1473A>C
ENST00000437950.5:c.*598A>C	ENSP00000415773.1:n.*598A>C
ENST00000438299.5:c.*598A>C	ENSP00000400593.1:n.*598A>C
ENST00000445186.5:c.*598A>C	ENSP00000397488.1:n.*598A>C
ENST00000452319.5:c.1499A>C	ENSP00000390436.1:p.Glu500Ala
ENST00000452692.5:c.*547A>C	ENSP00000403715.1:n.*547A>C
NM_005270.4:c.1499A>C	NP_005261.2:p.Glu500Ala
XM_006712422.1:c.1448A>C	XP_006712485.1:p.Glu483Ala
XM_011510969.1:c.1481A>C	XP_011509271.1:p.Glu494Ala
XM_011510970.1:c.1358A>C	XP_011509272.1:p.Glu453Ala
XM_011510971.1:c.1304A>C	XP_011509273.1:p.Glu435Ala
XM_011510972.1:c.1304A>C	XP_011509274.1:p.Glu435Ala
XM_011510973.1:c.1124A>C	XP_011509275.1:p.Glu375Ala
XM_011510974.1:c.1073A>C	XP_011509276.1:p.Glu358Ala
XM_006712422.3:c.1448A>C	XP_006712485.1:p.Glu483Ala
XM_011510969.2:c.1751A>C	XP_011509271.2:p.Glu584Ala
XM_011510970.2:c.1358A>C	XP_011509272.1:p.Glu453Ala
XM_011510971.2:c.1304A>C	XP_011509273.1:p.Glu435Ala
XM_011510972.2:c.1400A>C	XP_011509274.2:p.Glu467Ala
XM_011510973.2:c.1124A>C	XP_011509275.1:p.Glu375Ala
XM_011510974.2:c.1073A>C	XP_011509276.1:p.Glu358Ala
XM_017003818.1:c.1700A>C	XP_016859307.1:p.Glu567Ala
XM_024452794.1:c.1499A>C	XP_024308562.1:p.Glu500Ala
XM_024452795.1:c.1499A>C	XP_024308563.1:p.Glu500Ala
NM_001371271.1:c.1499A>C	NP_001358200.1:p.Glu500Ala
NM_001374353.1:c.1448A>C MANE Select	NP_001361282.1:p.Glu483Ala
NM_001374354.1:c.1073A>C	NP_001361283.1:p.Glu358Ala
NM_005270.5:c.1499A>C	NP_005261.2:p.Glu500Ala