Canonical Allele Identifier: CA428229910

Gene: GLI2

Linked Data

• gnomAD v4: 2-120978451-C-T
• MyVariant Identifiers: chr2:g.121736027C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978451C>T , CM000664.2:g.120978451C>T	GRCh38
NC_000002.11:g.121736027C>T , CM000664.1:g.121736027C>T	GRCh37
NC_000002.10:g.121452497C>T	NCBI36
NG_009030.1:g.186161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1335C>T MANE Select	ENSP00000354586.5:p.His445=
ENST00000452319.6:c.1386C>T	ENSP00000390436.1:p.His462=
ENST00000314490.15:c.399C>T	ENSP00000312694.12:p.His133=
ENST00000341310.10:c.*434C>T	ENSP00000344473.6:n.*434C>T
ENST00000361492.8:c.1386C>T	ENSP00000354586.4:p.His462=
ENST00000435313.6:n.1360C>T
ENST00000437950.5:c.*485C>T	ENSP00000415773.1:n.*485C>T
ENST00000438299.5:c.*485C>T	ENSP00000400593.1:n.*485C>T
ENST00000445186.5:c.*485C>T	ENSP00000397488.1:n.*485C>T
ENST00000452319.5:c.1386C>T	ENSP00000390436.1:p.His462=
ENST00000452692.5:c.*434C>T	ENSP00000403715.1:n.*434C>T
NM_005270.4:c.1386C>T	NP_005261.2:p.His462=
XM_006712422.1:c.1335C>T	XP_006712485.1:p.His445=
XM_011510969.1:c.1368C>T	XP_011509271.1:p.His456=
XM_011510970.1:c.1245C>T	XP_011509272.1:p.His415=
XM_011510971.1:c.1191C>T	XP_011509273.1:p.His397=
XM_011510972.1:c.1191C>T	XP_011509274.1:p.His397=
XM_011510973.1:c.1011C>T	XP_011509275.1:p.His337=
XM_011510974.1:c.960C>T	XP_011509276.1:p.His320=
XM_006712422.3:c.1335C>T	XP_006712485.1:p.His445=
XM_011510969.2:c.1638C>T	XP_011509271.2:p.His546=
XM_011510970.2:c.1245C>T	XP_011509272.1:p.His415=
XM_011510971.2:c.1191C>T	XP_011509273.1:p.His397=
XM_011510972.2:c.1287C>T	XP_011509274.2:p.His429=
XM_011510973.2:c.1011C>T	XP_011509275.1:p.His337=
XM_011510974.2:c.960C>T	XP_011509276.1:p.His320=
XM_017003818.1:c.1587C>T	XP_016859307.1:p.His529=
XM_024452794.1:c.1386C>T	XP_024308562.1:p.His462=
XM_024452795.1:c.1386C>T	XP_024308563.1:p.His462=
NM_001371271.1:c.1386C>T	NP_001358200.1:p.His462=
NM_001374353.1:c.1335C>T MANE Select	NP_001361282.1:p.His445=
NM_001374354.1:c.960C>T	NP_001361283.1:p.His320=
NM_005270.5:c.1386C>T	NP_005261.2:p.His462=