Canonical Allele Identifier: CA348161503

Gene: GLI2

Linked Data

• gnomAD v4: 2-120978494-T-C
• MyVariant Identifiers: chr2:g.121736070T>C (hg19) ; chr2:g.120978494T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978494T>C , CM000664.2:g.120978494T>C	GRCh38
NC_000002.11:g.121736070T>C , CM000664.1:g.121736070T>C	GRCh37
NC_000002.10:g.121452540T>C	NCBI36
NG_009030.1:g.186204T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1378T>C MANE Select	ENSP00000354586.5:p.Cys460Arg
ENST00000452319.6:c.1429T>C	ENSP00000390436.1:p.Cys477Arg
ENST00000314490.15:c.442T>C	ENSP00000312694.12:p.Cys148Arg
ENST00000341310.10:c.*477T>C	ENSP00000344473.6:n.*477T>C
ENST00000361492.8:c.1429T>C	ENSP00000354586.4:p.Cys477Arg
ENST00000435313.6:n.1403T>C
ENST00000437950.5:c.*528T>C	ENSP00000415773.1:n.*528T>C
ENST00000438299.5:c.*528T>C	ENSP00000400593.1:n.*528T>C
ENST00000445186.5:c.*528T>C	ENSP00000397488.1:n.*528T>C
ENST00000452319.5:c.1429T>C	ENSP00000390436.1:p.Cys477Arg
ENST00000452692.5:c.*477T>C	ENSP00000403715.1:n.*477T>C
NM_005270.4:c.1429T>C	NP_005261.2:p.Cys477Arg
XM_006712422.1:c.1378T>C	XP_006712485.1:p.Cys460Arg
XM_011510969.1:c.1411T>C	XP_011509271.1:p.Cys471Arg
XM_011510970.1:c.1288T>C	XP_011509272.1:p.Cys430Arg
XM_011510971.1:c.1234T>C	XP_011509273.1:p.Cys412Arg
XM_011510972.1:c.1234T>C	XP_011509274.1:p.Cys412Arg
XM_011510973.1:c.1054T>C	XP_011509275.1:p.Cys352Arg
XM_011510974.1:c.1003T>C	XP_011509276.1:p.Cys335Arg
XM_006712422.3:c.1378T>C	XP_006712485.1:p.Cys460Arg
XM_011510969.2:c.1681T>C	XP_011509271.2:p.Cys561Arg
XM_011510970.2:c.1288T>C	XP_011509272.1:p.Cys430Arg
XM_011510971.2:c.1234T>C	XP_011509273.1:p.Cys412Arg
XM_011510972.2:c.1330T>C	XP_011509274.2:p.Cys444Arg
XM_011510973.2:c.1054T>C	XP_011509275.1:p.Cys352Arg
XM_011510974.2:c.1003T>C	XP_011509276.1:p.Cys335Arg
XM_017003818.1:c.1630T>C	XP_016859307.1:p.Cys544Arg
XM_024452794.1:c.1429T>C	XP_024308562.1:p.Cys477Arg
XM_024452795.1:c.1429T>C	XP_024308563.1:p.Cys477Arg
NM_001371271.1:c.1429T>C	NP_001358200.1:p.Cys477Arg
NM_001374353.1:c.1378T>C MANE Select	NP_001361282.1:p.Cys460Arg
NM_001374354.1:c.1003T>C	NP_001361283.1:p.Cys335Arg
NM_005270.5:c.1429T>C	NP_005261.2:p.Cys477Arg