Canonical Allele Identifier: CA428749704

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121746655G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989079G>C , CM000664.2:g.120989079G>C	GRCh38
NC_000002.11:g.121746655G>C , CM000664.1:g.121746655G>C	GRCh37
NC_000002.10:g.121463125G>C	NCBI36
NG_009030.1:g.196789G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3114G>C MANE Select	ENSP00000354586.5:p.Leu1038=
ENST00000452319.6:c.3165G>C	ENSP00000390436.1:p.Leu1055=
ENST00000341310.10:c.*2213G>C	ENSP00000344473.6:n.*2213G>C
ENST00000361492.8:c.3165G>C	ENSP00000354586.4:p.Leu1055=
ENST00000438299.5:c.*2264G>C	ENSP00000400593.1:n.*2264G>C
ENST00000445186.5:c.*2264G>C	ENSP00000397488.1:n.*2264G>C
ENST00000452319.5:c.3165G>C	ENSP00000390436.1:p.Leu1055=
ENST00000452692.5:c.*2213G>C	ENSP00000403715.1:n.*2213G>C
NM_005270.4:c.3165G>C	NP_005261.2:p.Leu1055=
XM_006712422.1:c.3114G>C	XP_006712485.1:p.Leu1038=
XM_011510969.1:c.3147G>C	XP_011509271.1:p.Leu1049=
XM_011510970.1:c.3024G>C	XP_011509272.1:p.Leu1008=
XM_011510971.1:c.2970G>C	XP_011509273.1:p.Leu990=
XM_011510972.1:c.2970G>C	XP_011509274.1:p.Leu990=
XM_011510973.1:c.2790G>C	XP_011509275.1:p.Leu930=
XM_011510974.1:c.2739G>C	XP_011509276.1:p.Leu913=
XM_006712422.3:c.3114G>C	XP_006712485.1:p.Leu1038=
XM_011510969.2:c.3417G>C	XP_011509271.2:p.Leu1139=
XM_011510970.2:c.3024G>C	XP_011509272.1:p.Leu1008=
XM_011510971.2:c.2970G>C	XP_011509273.1:p.Leu990=
XM_011510972.2:c.3066G>C	XP_011509274.2:p.Leu1022=
XM_011510973.2:c.2790G>C	XP_011509275.1:p.Leu930=
XM_011510974.2:c.2739G>C	XP_011509276.1:p.Leu913=
XM_017003818.1:c.3366G>C	XP_016859307.1:p.Leu1122=
XM_024452794.1:c.3165G>C	XP_024308562.1:p.Leu1055=
XM_024452795.1:c.3165G>C	XP_024308563.1:p.Leu1055=
NM_001371271.1:c.3165G>C	NP_001358200.1:p.Leu1055=
NM_001374353.1:c.3114G>C MANE Select	NP_001361282.1:p.Leu1038=
NM_001374354.1:c.2739G>C	NP_001361283.1:p.Leu913=
NM_005270.5:c.3165G>C	NP_005261.2:p.Leu1055=