Canonical Allele Identifier: CA16043374

Gene: GLI2

Linked Data

• ClinVar Variation Id: 373963
• ClinVar RCV Id: RCV000415080
• dbSNP Id: rs1057518803
• gnomAD v4: 2-120927466-G-C
• MyVariant Identifiers: chr2:g.121685042G>C (hg19) ; chr2:g.120927466G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120927466G>C , CM000664.2:g.120927466G>C	GRCh38
NC_000002.11:g.121685042G>C , CM000664.1:g.121685042G>C	GRCh37
NC_000002.10:g.121401512G>C	NCBI36
NG_009030.1:g.135176G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.254G>C MANE Select	ENSP00000354586.5:p.Gly85Ala
ENST00000452319.6:c.254G>C	ENSP00000390436.1:p.Gly85Ala
ENST00000482119.6:c.254G>C	ENSP00000502423.1:p.Gly85Ala
ENST00000314490.15:c.-139-42927G>C	ENSP00000312694.12:n.-139-42927G>C
ENST00000341310.10:c.149-42927G>C	ENSP00000344473.6:n.149-42927G>C
ENST00000360874.10:c.230G>C	ENSP00000441454.1:p.Gly77Ala
ENST00000361492.8:c.254G>C	ENSP00000354586.4:p.Gly85Ala
ENST00000433812.1:c.125-23777G>C	ENSP00000402383.1:n.125-23777G>C
ENST00000435313.6:n.279G>C
ENST00000437950.5:c.149-42927G>C	ENSP00000415773.1:n.149-42927G>C
ENST00000438299.5:c.149-42927G>C	ENSP00000400593.1:n.149-42927G>C
ENST00000445186.5:c.149-42927G>C	ENSP00000397488.1:n.149-42927G>C
ENST00000452319.5:c.254G>C	ENSP00000390436.1:p.Gly85Ala
ENST00000452692.5:c.149-42927G>C	ENSP00000403715.1:n.149-42927G>C
ENST00000472722.5:n.343G>C
ENST00000482119.5:n.343G>C
NM_005270.4:c.254G>C	NP_005261.2:p.Gly85Ala
XM_006712422.1:c.254G>C	XP_006712485.1:p.Gly85Ala
XM_011510969.1:c.236G>C	XP_011509271.1:p.Gly79Ala
XM_011510970.1:c.113G>C	XP_011509272.1:p.Gly38Ala
XM_011510971.1:c.59G>C	XP_011509273.1:p.Gly20Ala
XM_011510972.1:c.59G>C	XP_011509274.1:p.Gly20Ala
XM_011510973.1:c.-121-23777G>C	XP_011509275.1:n.-121-23777G>C
XM_011510974.1:c.-121-23777G>C	XP_011509276.1:n.-121-23777G>C
XM_006712422.3:c.254G>C	XP_006712485.1:p.Gly85Ala
XM_011510969.2:c.506G>C	XP_011509271.2:p.Gly169Ala
XM_011510970.2:c.113G>C	XP_011509272.1:p.Gly38Ala
XM_011510971.2:c.59G>C	XP_011509273.1:p.Gly20Ala
XM_011510972.2:c.155G>C	XP_011509274.2:p.Gly52Ala
XM_011510973.2:c.-121-23777G>C	XP_011509275.1:n.-121-23777G>C
XM_011510974.2:c.-121-23777G>C	XP_011509276.1:n.-121-23777G>C
XM_017003818.1:c.506G>C	XP_016859307.1:p.Gly169Ala
XM_024452794.1:c.254G>C	XP_024308562.1:p.Gly85Ala
XM_024452795.1:c.254G>C	XP_024308563.1:p.Gly85Ala
NM_001371271.1:c.254G>C	NP_001358200.1:p.Gly85Ala
NM_001374353.1:c.254G>C MANE Select	NP_001361282.1:p.Gly85Ala
NM_001374354.1:c.-121-23777G>C	NP_001361283.1:n.-121-23777G>C
NM_005270.5:c.254G>C	NP_005261.2:p.Gly85Ala