Canonical Allele Identifier: CA1852342

Gene: GLI2

Linked Data

• dbSNP Id: rs772723859
• ExAC: 2:121746732 G / T
• gnomAD v2: 2-121746732-G-T
• gnomAD v4: 2-120989156-G-T
• MyVariant Identifiers: chr2:g.121746732G>T (hg19) ; chr2:g.120989156G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989156G>T , CM000664.2:g.120989156G>T	GRCh38
NC_000002.11:g.121746732G>T , CM000664.1:g.121746732G>T	GRCh37
NC_000002.10:g.121463202G>T	NCBI36
NG_009030.1:g.196866G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.3191G>T MANE Select	ENSP00000354586.5:p.Gly1064Val
ENST00000452319.6:c.3242G>T	ENSP00000390436.1:p.Gly1081Val
ENST00000341310.10:c.*2290G>T	ENSP00000344473.6:n.*2290G>T
ENST00000361492.8:c.3242G>T	ENSP00000354586.4:p.Gly1081Val
ENST00000438299.5:c.*2341G>T	ENSP00000400593.1:n.*2341G>T
ENST00000445186.5:c.*2341G>T	ENSP00000397488.1:n.*2341G>T
ENST00000452319.5:c.3242G>T	ENSP00000390436.1:p.Gly1081Val
ENST00000452692.5:c.*2290G>T	ENSP00000403715.1:n.*2290G>T
NM_005270.4:c.3242G>T	NP_005261.2:p.Gly1081Val
XM_006712422.1:c.3191G>T	XP_006712485.1:p.Gly1064Val
XM_011510969.1:c.3224G>T	XP_011509271.1:p.Gly1075Val
XM_011510970.1:c.3101G>T	XP_011509272.1:p.Gly1034Val
XM_011510971.1:c.3047G>T	XP_011509273.1:p.Gly1016Val
XM_011510972.1:c.3047G>T	XP_011509274.1:p.Gly1016Val
XM_011510973.1:c.2867G>T	XP_011509275.1:p.Gly956Val
XM_011510974.1:c.2816G>T	XP_011509276.1:p.Gly939Val
XM_006712422.3:c.3191G>T	XP_006712485.1:p.Gly1064Val
XM_011510969.2:c.3494G>T	XP_011509271.2:p.Gly1165Val
XM_011510970.2:c.3101G>T	XP_011509272.1:p.Gly1034Val
XM_011510971.2:c.3047G>T	XP_011509273.1:p.Gly1016Val
XM_011510972.2:c.3143G>T	XP_011509274.2:p.Gly1048Val
XM_011510973.2:c.2867G>T	XP_011509275.1:p.Gly956Val
XM_011510974.2:c.2816G>T	XP_011509276.1:p.Gly939Val
XM_017003818.1:c.3443G>T	XP_016859307.1:p.Gly1148Val
XM_024452794.1:c.3242G>T	XP_024308562.1:p.Gly1081Val
XM_024452795.1:c.3242G>T	XP_024308563.1:p.Gly1081Val
NM_001371271.1:c.3242G>T	NP_001358200.1:p.Gly1081Val
NM_001374353.1:c.3191G>T MANE Select	NP_001361282.1:p.Gly1064Val
NM_001374354.1:c.2816G>T	NP_001361283.1:p.Gly939Val
NM_005270.5:c.3242G>T	NP_005261.2:p.Gly1081Val