Canonical Allele Identifier: CA348180391

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748222G>C (hg19) ; chr2:g.120990646G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990646G>C , CM000664.2:g.120990646G>C	GRCh38
NC_000002.11:g.121748222G>C , CM000664.1:g.121748222G>C	GRCh37
NC_000002.10:g.121464692G>C	NCBI36
NG_009030.1:g.198356G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4681G>C MANE Select	ENSP00000354586.5:p.Glu1561Gln
ENST00000452319.6:c.4732G>C	ENSP00000390436.1:p.Glu1578Gln
ENST00000341310.10:c.*3780G>C	ENSP00000344473.6:n.*3780G>C
ENST00000361492.8:c.4732G>C	ENSP00000354586.4:p.Glu1578Gln
ENST00000438299.5:c.*2600G>C	ENSP00000400593.1:n.*2600G>C
ENST00000445186.5:c.*3831G>C	ENSP00000397488.1:n.*3831G>C
ENST00000452319.5:c.4732G>C	ENSP00000390436.1:p.Glu1578Gln
ENST00000452692.5:c.*2549G>C	ENSP00000403715.1:n.*2549G>C
NM_005270.4:c.4732G>C	NP_005261.2:p.Glu1578Gln
XM_006712422.1:c.4681G>C	XP_006712485.1:p.Glu1561Gln
XM_011510969.1:c.4714G>C	XP_011509271.1:p.Glu1572Gln
XM_011510970.1:c.4591G>C	XP_011509272.1:p.Glu1531Gln
XM_011510971.1:c.4537G>C	XP_011509273.1:p.Glu1513Gln
XM_011510972.1:c.4537G>C	XP_011509274.1:p.Glu1513Gln
XM_011510973.1:c.4357G>C	XP_011509275.1:p.Glu1453Gln
XM_011510974.1:c.4306G>C	XP_011509276.1:p.Glu1436Gln
XM_006712422.3:c.4681G>C	XP_006712485.1:p.Glu1561Gln
XM_011510969.2:c.4984G>C	XP_011509271.2:p.Glu1662Gln
XM_011510970.2:c.4591G>C	XP_011509272.1:p.Glu1531Gln
XM_011510971.2:c.4537G>C	XP_011509273.1:p.Glu1513Gln
XM_011510972.2:c.4633G>C	XP_011509274.2:p.Glu1545Gln
XM_011510973.2:c.4357G>C	XP_011509275.1:p.Glu1453Gln
XM_011510974.2:c.4306G>C	XP_011509276.1:p.Glu1436Gln
XM_017003818.1:c.4933G>C	XP_016859307.1:p.Glu1645Gln
XM_024452794.1:c.4732G>C	XP_024308562.1:p.Glu1578Gln
XM_024452795.1:c.4732G>C	XP_024308563.1:p.Glu1578Gln
NM_001371271.1:c.4732G>C	NP_001358200.1:p.Glu1578Gln
NM_001374353.1:c.4681G>C MANE Select	NP_001361282.1:p.Glu1561Gln
NM_001374354.1:c.4306G>C	NP_001361283.1:p.Glu1436Gln
NM_005270.5:c.4732G>C	NP_005261.2:p.Glu1578Gln