Canonical Allele Identifier: CA348161545

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121736091T>C (hg19) ; chr2:g.120978515T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978515T>C , CM000664.2:g.120978515T>C	GRCh38
NC_000002.11:g.121736091T>C , CM000664.1:g.121736091T>C	GRCh37
NC_000002.10:g.121452561T>C	NCBI36
NG_009030.1:g.186225T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1399T>C MANE Select	ENSP00000354586.5:p.Phe467Leu
ENST00000452319.6:c.1450T>C	ENSP00000390436.1:p.Phe484Leu
ENST00000314490.15:c.463T>C	ENSP00000312694.12:p.Phe155Leu
ENST00000341310.10:c.*498T>C	ENSP00000344473.6:n.*498T>C
ENST00000361492.8:c.1450T>C	ENSP00000354586.4:p.Phe484Leu
ENST00000435313.6:n.1424T>C
ENST00000437950.5:c.*549T>C	ENSP00000415773.1:n.*549T>C
ENST00000438299.5:c.*549T>C	ENSP00000400593.1:n.*549T>C
ENST00000445186.5:c.*549T>C	ENSP00000397488.1:n.*549T>C
ENST00000452319.5:c.1450T>C	ENSP00000390436.1:p.Phe484Leu
ENST00000452692.5:c.*498T>C	ENSP00000403715.1:n.*498T>C
NM_005270.4:c.1450T>C	NP_005261.2:p.Phe484Leu
XM_006712422.1:c.1399T>C	XP_006712485.1:p.Phe467Leu
XM_011510969.1:c.1432T>C	XP_011509271.1:p.Phe478Leu
XM_011510970.1:c.1309T>C	XP_011509272.1:p.Phe437Leu
XM_011510971.1:c.1255T>C	XP_011509273.1:p.Phe419Leu
XM_011510972.1:c.1255T>C	XP_011509274.1:p.Phe419Leu
XM_011510973.1:c.1075T>C	XP_011509275.1:p.Phe359Leu
XM_011510974.1:c.1024T>C	XP_011509276.1:p.Phe342Leu
XM_006712422.3:c.1399T>C	XP_006712485.1:p.Phe467Leu
XM_011510969.2:c.1702T>C	XP_011509271.2:p.Phe568Leu
XM_011510970.2:c.1309T>C	XP_011509272.1:p.Phe437Leu
XM_011510971.2:c.1255T>C	XP_011509273.1:p.Phe419Leu
XM_011510972.2:c.1351T>C	XP_011509274.2:p.Phe451Leu
XM_011510973.2:c.1075T>C	XP_011509275.1:p.Phe359Leu
XM_011510974.2:c.1024T>C	XP_011509276.1:p.Phe342Leu
XM_017003818.1:c.1651T>C	XP_016859307.1:p.Phe551Leu
XM_024452794.1:c.1450T>C	XP_024308562.1:p.Phe484Leu
XM_024452795.1:c.1450T>C	XP_024308563.1:p.Phe484Leu
NM_001371271.1:c.1450T>C	NP_001358200.1:p.Phe484Leu
NM_001374353.1:c.1399T>C MANE Select	NP_001361282.1:p.Phe467Leu
NM_001374354.1:c.1024T>C	NP_001361283.1:p.Phe342Leu
NM_005270.5:c.1450T>C	NP_005261.2:p.Phe484Leu