Canonical Allele Identifier: CA348161484

Gene: GLI2

Linked Data

• ClinVar Variation Id: 498545
• ClinVar RCV Id: RCV000594134 ; RCV001854023 ; RCV003915705
• dbSNP Id: rs1553476382
• MyVariant Identifiers: chr2:g.121736062G>A (hg19) ; chr2:g.120978486G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978486G>A , CM000664.2:g.120978486G>A	GRCh38
NC_000002.11:g.121736062G>A , CM000664.1:g.121736062G>A	GRCh37
NC_000002.10:g.121452532G>A	NCBI36
NG_009030.1:g.186196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1370G>A MANE Select	ENSP00000354586.5:p.Trp457Ter
ENST00000452319.6:c.1421G>A	ENSP00000390436.1:p.Trp474Ter
ENST00000314490.15:c.434G>A	ENSP00000312694.12:p.Trp145Ter
ENST00000341310.10:c.*469G>A	ENSP00000344473.6:n.*469G>A
ENST00000361492.8:c.1421G>A	ENSP00000354586.4:p.Trp474Ter
ENST00000435313.6:n.1395G>A
ENST00000437950.5:c.*520G>A	ENSP00000415773.1:n.*520G>A
ENST00000438299.5:c.*520G>A	ENSP00000400593.1:n.*520G>A
ENST00000445186.5:c.*520G>A	ENSP00000397488.1:n.*520G>A
ENST00000452319.5:c.1421G>A	ENSP00000390436.1:p.Trp474Ter
ENST00000452692.5:c.*469G>A	ENSP00000403715.1:n.*469G>A
NM_005270.4:c.1421G>A	NP_005261.2:p.Trp474Ter
XM_006712422.1:c.1370G>A	XP_006712485.1:p.Trp457Ter
XM_011510969.1:c.1403G>A	XP_011509271.1:p.Trp468Ter
XM_011510970.1:c.1280G>A	XP_011509272.1:p.Trp427Ter
XM_011510971.1:c.1226G>A	XP_011509273.1:p.Trp409Ter
XM_011510972.1:c.1226G>A	XP_011509274.1:p.Trp409Ter
XM_011510973.1:c.1046G>A	XP_011509275.1:p.Trp349Ter
XM_011510974.1:c.995G>A	XP_011509276.1:p.Trp332Ter
XM_006712422.3:c.1370G>A	XP_006712485.1:p.Trp457Ter
XM_011510969.2:c.1673G>A	XP_011509271.2:p.Trp558Ter
XM_011510970.2:c.1280G>A	XP_011509272.1:p.Trp427Ter
XM_011510971.2:c.1226G>A	XP_011509273.1:p.Trp409Ter
XM_011510972.2:c.1322G>A	XP_011509274.2:p.Trp441Ter
XM_011510973.2:c.1046G>A	XP_011509275.1:p.Trp349Ter
XM_011510974.2:c.995G>A	XP_011509276.1:p.Trp332Ter
XM_017003818.1:c.1622G>A	XP_016859307.1:p.Trp541Ter
XM_024452794.1:c.1421G>A	XP_024308562.1:p.Trp474Ter
XM_024452795.1:c.1421G>A	XP_024308563.1:p.Trp474Ter
NM_001371271.1:c.1421G>A	NP_001358200.1:p.Trp474Ter
NM_001374353.1:c.1370G>A MANE Select	NP_001361282.1:p.Trp457Ter
NM_001374354.1:c.995G>A	NP_001361283.1:p.Trp332Ter
NM_005270.5:c.1421G>A	NP_005261.2:p.Trp474Ter