Canonical Allele Identifier: CA1035694773

Gene: GLI2

Linked Data

• dbSNP Id: rs1684877000
• gnomAD v3: 2-120805004-C-T
• gnomAD v4: 2-120805004-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120805004C>T , CM000664.2:g.120805004C>T	GRCh38
NC_000002.11:g.121562580C>T , CM000664.1:g.121562580C>T	GRCh37
NC_000002.10:g.121279050C>T	NCBI36
NG_009030.1:g.12714C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.148+7536C>T MANE Select	ENSP00000354586.5:n.148+7536C>T
ENST00000418323.6:c.148+7536C>T	ENSP00000398992.1:n.148+7536C>T
ENST00000452319.6:c.148+7536C>T	ENSP00000390436.1:n.148+7536C>T
ENST00000482119.6:c.148+7536C>T	ENSP00000502423.1:n.148+7536C>T
ENST00000314490.15:c.-140+7536C>T	ENSP00000312694.12:n.-140+7536C>T
ENST00000341310.10:c.148+7536C>T	ENSP00000344473.6:n.148+7536C>T
ENST00000360874.10:c.124+7536C>T	ENSP00000441454.1:n.124+7536C>T
ENST00000361492.8:c.148+7536C>T	ENSP00000354586.4:n.148+7536C>T
ENST00000418323.5:c.148+7536C>T	ENSP00000398992.1:n.148+7536C>T
ENST00000433812.1:c.124+7536C>T	ENSP00000402383.1:n.124+7536C>T
ENST00000435313.6:n.173+7536C>T
ENST00000437950.5:c.148+7536C>T	ENSP00000415773.1:n.148+7536C>T
ENST00000438299.5:c.148+7536C>T	ENSP00000400593.1:n.148+7536C>T
ENST00000445186.5:c.148+7536C>T	ENSP00000397488.1:n.148+7536C>T
ENST00000452319.5:c.148+7536C>T	ENSP00000390436.1:n.148+7536C>T
ENST00000452692.5:c.148+7536C>T	ENSP00000403715.1:n.148+7536C>T
ENST00000472722.5:n.237+7536C>T
ENST00000482119.5:n.237+7536C>T
NM_005270.4:c.148+7536C>T	NP_005261.2:n.148+7536C>T
XM_006712422.1:c.148+7536C>T	XP_006712485.1:n.148+7536C>T
XM_011510973.1:c.-122+7536C>T	XP_011509275.1:n.-122+7536C>T
XM_011510974.1:c.-122+7536C>T	XP_011509276.1:n.-122+7536C>T
XM_006712422.3:c.148+7536C>T	XP_006712485.1:n.148+7536C>T
XM_011510973.2:c.-122+7536C>T	XP_011509275.1:n.-122+7536C>T
XM_011510974.2:c.-122+7536C>T	XP_011509276.1:n.-122+7536C>T
XM_024452794.1:c.148+7536C>T	XP_024308562.1:n.148+7536C>T
XM_024452795.1:c.148+7536C>T	XP_024308563.1:n.148+7536C>T
NM_001371271.1:c.148+7536C>T	NP_001358200.1:n.148+7536C>T
NM_001374353.1:c.148+7536C>T MANE Select	NP_001361282.1:n.148+7536C>T
NM_001374354.1:c.-122+7536C>T	NP_001361283.1:n.-122+7536C>T
NM_005270.5:c.148+7536C>T	NP_005261.2:n.148+7536C>T