Canonical Allele Identifier: CA2170310

Gene: GIGYF2

Linked Data

• dbSNP Id: rs767600397
• ExAC: 2:233656152 G / T
• gnomAD v2: 2-233656152-G-T
• gnomAD v4: 2-232791442-G-T
• MyVariant Identifiers: chr2:g.233656152G>T (hg19) ; chr2:g.232791442G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232791442G>T , CM000664.2:g.232791442G>T	GRCh38
NC_000002.11:g.233656152G>T , CM000664.1:g.233656152G>T	GRCh37
NC_000002.10:g.233364396G>T	NCBI36
NG_011847.1:g.99138G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1278G>T MANE Select	ENSP00000362664.5:p.Gly426=
ENST00000676848.1:c.624G>T	ENSP00000503313.1:p.Gly208=
ENST00000677450.1:c.759G>T	ENSP00000503420.1:p.Gly253=
ENST00000677591.1:c.534G>T	ENSP00000503061.1:p.Gly178=
ENST00000678230.1:c.771G>T	ENSP00000504272.1:p.Gly257=
ENST00000678339.1:c.534G>T	ENSP00000503437.1:p.Gly178=
ENST00000678466.1:c.534G>T	ENSP00000504219.1:p.Gly178=
ENST00000678885.1:c.534G>T	ENSP00000503563.1:p.Gly178=
ENST00000373563.8:c.1278G>T	ENSP00000362664.4:p.Gly426=
ENST00000409196.7:c.1260G>T	ENSP00000387070.3:p.Gly420=
ENST00000409451.7:c.1341G>T	ENSP00000387170.3:p.Gly447=
ENST00000409480.5:c.1344G>T	ENSP00000386765.1:p.Gly448=
ENST00000409547.5:c.1278G>T	ENSP00000386537.1:p.Gly426=
ENST00000423659.5:c.1107G>T	ENSP00000404195.1:p.Gly369=
ENST00000440945.5:c.1260G>T	ENSP00000410297.1:p.Gly420=
ENST00000458528.1:c.*271G>T	ENSP00000389322.1:n.*271G>T
ENST00000629305.2:c.1344G>T	ENSP00000487548.1:p.Gly448=
NM_001103146.1:c.1278G>T	NP_001096616.1:p.Gly426=
NM_001103147.1:c.1341G>T	NP_001096617.1:p.Gly447=
NM_001103148.1:c.1260G>T	NP_001096618.1:p.Gly420=
NM_015575.3:c.1278G>T	NP_056390.2:p.Gly426=
NR_103492.1:n.1391G>T
NM_001103146.3:c.1278G>T MANE Select	NP_001096616.1:p.Gly426=
NM_001103147.2:c.1341G>T	NP_001096617.1:p.Gly447=
NM_001103148.2:c.1260G>T	NP_001096618.1:p.Gly420=
NM_015575.4:c.1278G>T	NP_056390.2:p.Gly426=