Canonical Allele Identifier: CA348161562

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121736097G>C (hg19) ; chr2:g.120978521G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978521G>C , CM000664.2:g.120978521G>C	GRCh38
NC_000002.11:g.121736097G>C , CM000664.1:g.121736097G>C	GRCh37
NC_000002.10:g.121452567G>C	NCBI36
NG_009030.1:g.186231G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1405G>C MANE Select	ENSP00000354586.5:p.Ala469Pro
ENST00000452319.6:c.1456G>C	ENSP00000390436.1:p.Ala486Pro
ENST00000314490.15:c.469G>C	ENSP00000312694.12:p.Ala157Pro
ENST00000341310.10:c.*504G>C	ENSP00000344473.6:n.*504G>C
ENST00000361492.8:c.1456G>C	ENSP00000354586.4:p.Ala486Pro
ENST00000435313.6:n.1430G>C
ENST00000437950.5:c.*555G>C	ENSP00000415773.1:n.*555G>C
ENST00000438299.5:c.*555G>C	ENSP00000400593.1:n.*555G>C
ENST00000445186.5:c.*555G>C	ENSP00000397488.1:n.*555G>C
ENST00000452319.5:c.1456G>C	ENSP00000390436.1:p.Ala486Pro
ENST00000452692.5:c.*504G>C	ENSP00000403715.1:n.*504G>C
NM_005270.4:c.1456G>C	NP_005261.2:p.Ala486Pro
XM_006712422.1:c.1405G>C	XP_006712485.1:p.Ala469Pro
XM_011510969.1:c.1438G>C	XP_011509271.1:p.Ala480Pro
XM_011510970.1:c.1315G>C	XP_011509272.1:p.Ala439Pro
XM_011510971.1:c.1261G>C	XP_011509273.1:p.Ala421Pro
XM_011510972.1:c.1261G>C	XP_011509274.1:p.Ala421Pro
XM_011510973.1:c.1081G>C	XP_011509275.1:p.Ala361Pro
XM_011510974.1:c.1030G>C	XP_011509276.1:p.Ala344Pro
XM_006712422.3:c.1405G>C	XP_006712485.1:p.Ala469Pro
XM_011510969.2:c.1708G>C	XP_011509271.2:p.Ala570Pro
XM_011510970.2:c.1315G>C	XP_011509272.1:p.Ala439Pro
XM_011510971.2:c.1261G>C	XP_011509273.1:p.Ala421Pro
XM_011510972.2:c.1357G>C	XP_011509274.2:p.Ala453Pro
XM_011510973.2:c.1081G>C	XP_011509275.1:p.Ala361Pro
XM_011510974.2:c.1030G>C	XP_011509276.1:p.Ala344Pro
XM_017003818.1:c.1657G>C	XP_016859307.1:p.Ala553Pro
XM_024452794.1:c.1456G>C	XP_024308562.1:p.Ala486Pro
XM_024452795.1:c.1456G>C	XP_024308563.1:p.Ala486Pro
NM_001371271.1:c.1456G>C	NP_001358200.1:p.Ala486Pro
NM_001374353.1:c.1405G>C MANE Select	NP_001361282.1:p.Ala469Pro
NM_001374354.1:c.1030G>C	NP_001361283.1:p.Ala344Pro
NM_005270.5:c.1456G>C	NP_005261.2:p.Ala486Pro