Canonical Allele Identifier: CA348178673

Gene: GLI2

Linked Data

• ClinVar Variation Id: 2938940
• ClinVar RCV Id: RCV003791666
• MyVariant Identifiers: chr2:g.121747698T>C (hg19) ; chr2:g.120990122T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990122T>C , CM000664.2:g.120990122T>C	GRCh38
NC_000002.11:g.121747698T>C , CM000664.1:g.121747698T>C	GRCh37
NC_000002.10:g.121464168T>C	NCBI36
NG_009030.1:g.197832T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4157T>C MANE Select	ENSP00000354586.5:p.Met1386Thr
ENST00000452319.6:c.4208T>C	ENSP00000390436.1:p.Met1403Thr
ENST00000341310.10:c.*3256T>C	ENSP00000344473.6:n.*3256T>C
ENST00000361492.8:c.4208T>C	ENSP00000354586.4:p.Met1403Thr
ENST00000438299.5:c.*2544-468T>C	ENSP00000400593.1:n.*2544-468T>C
ENST00000445186.5:c.*3307T>C	ENSP00000397488.1:n.*3307T>C
ENST00000452319.5:c.4208T>C	ENSP00000390436.1:p.Met1403Thr
ENST00000452692.5:c.*2493-468T>C	ENSP00000403715.1:n.*2493-468T>C
NM_005270.4:c.4208T>C	NP_005261.2:p.Met1403Thr
XM_006712422.1:c.4157T>C	XP_006712485.1:p.Met1386Thr
XM_011510969.1:c.4190T>C	XP_011509271.1:p.Met1397Thr
XM_011510970.1:c.4067T>C	XP_011509272.1:p.Met1356Thr
XM_011510971.1:c.4013T>C	XP_011509273.1:p.Met1338Thr
XM_011510972.1:c.4013T>C	XP_011509274.1:p.Met1338Thr
XM_011510973.1:c.3833T>C	XP_011509275.1:p.Met1278Thr
XM_011510974.1:c.3782T>C	XP_011509276.1:p.Met1261Thr
XM_006712422.3:c.4157T>C	XP_006712485.1:p.Met1386Thr
XM_011510969.2:c.4460T>C	XP_011509271.2:p.Met1487Thr
XM_011510970.2:c.4067T>C	XP_011509272.1:p.Met1356Thr
XM_011510971.2:c.4013T>C	XP_011509273.1:p.Met1338Thr
XM_011510972.2:c.4109T>C	XP_011509274.2:p.Met1370Thr
XM_011510973.2:c.3833T>C	XP_011509275.1:p.Met1278Thr
XM_011510974.2:c.3782T>C	XP_011509276.1:p.Met1261Thr
XM_017003818.1:c.4409T>C	XP_016859307.1:p.Met1470Thr
XM_024452794.1:c.4208T>C	XP_024308562.1:p.Met1403Thr
XM_024452795.1:c.4208T>C	XP_024308563.1:p.Met1403Thr
NM_001371271.1:c.4208T>C	NP_001358200.1:p.Met1403Thr
NM_001374353.1:c.4157T>C MANE Select	NP_001361282.1:p.Met1386Thr
NM_001374354.1:c.3782T>C	NP_001361283.1:p.Met1261Thr
NM_005270.5:c.4208T>C	NP_005261.2:p.Met1403Thr