Canonical Allele Identifier: CA348161673

Gene: GLI2

Linked Data

• gnomAD v4: 2-120978570-C-T
• MyVariant Identifiers: chr2:g.121736146C>T (hg19) ; chr2:g.120978570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978570C>T , CM000664.2:g.120978570C>T	GRCh38
NC_000002.11:g.121736146C>T , CM000664.1:g.121736146C>T	GRCh37
NC_000002.10:g.121452616C>T	NCBI36
NG_009030.1:g.186280C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1454C>T MANE Select	ENSP00000354586.5:p.Pro485Leu
ENST00000452319.6:c.1505C>T	ENSP00000390436.1:p.Pro502Leu
ENST00000314490.15:c.518C>T	ENSP00000312694.12:p.Pro173Leu
ENST00000341310.10:c.*553C>T	ENSP00000344473.6:n.*553C>T
ENST00000361492.8:c.1505C>T	ENSP00000354586.4:p.Pro502Leu
ENST00000435313.6:n.1479C>T
ENST00000437950.5:c.*604C>T	ENSP00000415773.1:n.*604C>T
ENST00000438299.5:c.*604C>T	ENSP00000400593.1:n.*604C>T
ENST00000445186.5:c.*604C>T	ENSP00000397488.1:n.*604C>T
ENST00000452319.5:c.1505C>T	ENSP00000390436.1:p.Pro502Leu
ENST00000452692.5:c.*553C>T	ENSP00000403715.1:n.*553C>T
NM_005270.4:c.1505C>T	NP_005261.2:p.Pro502Leu
XM_006712422.1:c.1454C>T	XP_006712485.1:p.Pro485Leu
XM_011510969.1:c.1487C>T	XP_011509271.1:p.Pro496Leu
XM_011510970.1:c.1364C>T	XP_011509272.1:p.Pro455Leu
XM_011510971.1:c.1310C>T	XP_011509273.1:p.Pro437Leu
XM_011510972.1:c.1310C>T	XP_011509274.1:p.Pro437Leu
XM_011510973.1:c.1130C>T	XP_011509275.1:p.Pro377Leu
XM_011510974.1:c.1079C>T	XP_011509276.1:p.Pro360Leu
XM_006712422.3:c.1454C>T	XP_006712485.1:p.Pro485Leu
XM_011510969.2:c.1757C>T	XP_011509271.2:p.Pro586Leu
XM_011510970.2:c.1364C>T	XP_011509272.1:p.Pro455Leu
XM_011510971.2:c.1310C>T	XP_011509273.1:p.Pro437Leu
XM_011510972.2:c.1406C>T	XP_011509274.2:p.Pro469Leu
XM_011510973.2:c.1130C>T	XP_011509275.1:p.Pro377Leu
XM_011510974.2:c.1079C>T	XP_011509276.1:p.Pro360Leu
XM_017003818.1:c.1706C>T	XP_016859307.1:p.Pro569Leu
XM_024452794.1:c.1505C>T	XP_024308562.1:p.Pro502Leu
XM_024452795.1:c.1505C>T	XP_024308563.1:p.Pro502Leu
NM_001371271.1:c.1505C>T	NP_001358200.1:p.Pro502Leu
NM_001374353.1:c.1454C>T MANE Select	NP_001361282.1:p.Pro485Leu
NM_001374354.1:c.1079C>T	NP_001361283.1:p.Pro360Leu
NM_005270.5:c.1505C>T	NP_005261.2:p.Pro502Leu