Canonical Allele Identifier: CA766195778

Gene: GIGYF2

Linked Data

• dbSNP Id: rs1370044990
• gnomAD v3: 2-232791616-T-TC
• gnomAD v4: 2-232791616-T-TC
• MyVariant Identifiers: chr2:g.233656326_233656327insC (hg19) ; chr2:g.232791616_232791617insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232791618dup , CM000664.2:g.232791618dup	GRCh38
NC_000002.11:g.233656328dup , CM000664.1:g.233656328dup	GRCh37
NC_000002.10:g.233364572dup	NCBI36
NG_011847.1:g.99314dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1282+172dup MANE Select	ENSP00000362664.5:n.1282+172dup
ENST00000676848.1:c.628+172dup	ENSP00000503313.1:n.628+172dup
ENST00000677450.1:c.763+172dup	ENSP00000503420.1:n.763+172dup
ENST00000677591.1:c.538+172dup	ENSP00000503061.1:n.538+172dup
ENST00000678230.1:c.775+172dup	ENSP00000504272.1:n.775+172dup
ENST00000678339.1:c.538+172dup	ENSP00000503437.1:n.538+172dup
ENST00000678466.1:c.538+172dup	ENSP00000504219.1:n.538+172dup
ENST00000678885.1:c.538+172dup	ENSP00000503563.1:n.538+172dup
ENST00000373563.8:c.1282+172dup	ENSP00000362664.4:n.1282+172dup
ENST00000409196.7:c.1264+172dup	ENSP00000387070.3:n.1264+172dup
ENST00000409451.7:c.1345+172dup	ENSP00000387170.3:n.1345+172dup
ENST00000409480.5:c.1348+172dup	ENSP00000386765.1:n.1348+172dup
ENST00000409547.5:c.1282+172dup	ENSP00000386537.1:n.1282+172dup
ENST00000423659.5:c.1111+172dup	ENSP00000404195.1:n.1111+172dup
ENST00000440945.5:c.1264+172dup	ENSP00000410297.1:n.1264+172dup
ENST00000458528.1:c.*275+172dup	ENSP00000389322.1:n.*275+172dup
ENST00000629305.2:c.1348+172dup	ENSP00000487548.1:n.1348+172dup
NM_001103146.1:c.1282+172dup	NP_001096616.1:n.1282+172dup
NM_001103147.1:c.1345+172dup	NP_001096617.1:n.1345+172dup
NM_001103148.1:c.1264+172dup	NP_001096618.1:n.1264+172dup
NM_015575.3:c.1282+172dup	NP_056390.2:n.1282+172dup
NR_103492.1:n.1395+172dup
NM_001103146.3:c.1282+172dup MANE Select	NP_001096616.1:n.1282+172dup
NM_001103147.2:c.1345+172dup	NP_001096617.1:n.1345+172dup
NM_001103148.2:c.1264+172dup	NP_001096618.1:n.1264+172dup
NM_015575.4:c.1282+172dup	NP_056390.2:n.1282+172dup