Canonical Allele Identifier: CA1852701

Gene: GLI2

Linked Data

• dbSNP Id: rs769137473
• ExAC: 2:121748284 AGGGGTCAT / A
• gnomAD v2: 2-121748284-AGGGGTCAT-A
• gnomAD v4: 2-120990708-AGGGGTCAT-A
• MyVariant Identifiers: chr2:g.121748285_121748292del (hg19) ; chr2:g.120990709_120990716del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990709_120990716del , CM000664.2:g.120990709_120990716del	GRCh38
NC_000002.11:g.121748285_121748292del , CM000664.1:g.121748285_121748292del	GRCh37
NC_000002.10:g.121464755_121464762del	NCBI36
NG_009030.1:g.198419_198426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.*34_*41del MANE Select	ENSP00000354586.5:n.*34_*41del
ENST00000341310.10:c.*3843_*3850del	ENSP00000344473.6:n.*3843_*3850del
ENST00000361492.8:c.*34_*41del	ENSP00000354586.4:n.*34_*41del
ENST00000438299.5:c.*2663_*2670del	ENSP00000400593.1:n.*2663_*2670del
ENST00000445186.5:c.*3894_*3901del	ENSP00000397488.1:n.*3894_*3901del
ENST00000452319.5:c.*34_*41del	ENSP00000390436.1:n.*34_*41del
ENST00000452692.5:c.*2612_*2619del	ENSP00000403715.1:n.*2612_*2619del
NM_005270.4:c.*34_*41del	NP_005261.2:n.*34_*41del
XM_006712422.1:c.*34_*41del	XP_006712485.1:n.*34_*41del
XM_011510969.1:c.*34_*41del	XP_011509271.1:n.*34_*41del
XM_011510970.1:c.*34_*41del	XP_011509272.1:n.*34_*41del
XM_011510971.1:c.*34_*41del	XP_011509273.1:n.*34_*41del
XM_011510972.1:c.*34_*41del	XP_011509274.1:n.*34_*41del
XM_011510973.1:c.*34_*41del	XP_011509275.1:n.*34_*41del
XM_011510974.1:c.*34_*41del	XP_011509276.1:n.*34_*41del
XM_006712422.3:c.*34_*41del	XP_006712485.1:n.*34_*41del
XM_011510969.2:c.*34_*41del	XP_011509271.2:n.*34_*41del
XM_011510970.2:c.*34_*41del	XP_011509272.1:n.*34_*41del
XM_011510971.2:c.*34_*41del	XP_011509273.1:n.*34_*41del
XM_011510972.2:c.*34_*41del	XP_011509274.2:n.*34_*41del
XM_011510973.2:c.*34_*41del	XP_011509275.1:n.*34_*41del
XM_011510974.2:c.*34_*41del	XP_011509276.1:n.*34_*41del
XM_017003818.1:c.*34_*41del	XP_016859307.1:n.*34_*41del
XM_024452794.1:c.*34_*41del	XP_024308562.1:n.*34_*41del
XM_024452795.1:c.*34_*41del	XP_024308563.1:n.*34_*41del
NM_001371271.1:c.*34_*41del	NP_001358200.1:n.*34_*41del
NM_001374353.1:c.*34_*41del MANE Select	NP_001361282.1:n.*34_*41del
NM_001374354.1:c.*34_*41del	NP_001361283.1:n.*34_*41del
NM_005270.5:c.*34_*41del	NP_005261.2:n.*34_*41del