Canonical Allele Identifier: CA351019083

Gene: GIGYF2

Linked Data

• dbSNP Id: rs2106383309
• gnomAD v3: 2-232809801-T-G
• MyVariant Identifiers: chr2:g.233674511T>G (hg19) ; chr2:g.232809801T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232809801T>G , CM000664.2:g.232809801T>G	GRCh38
NC_000002.11:g.233674511T>G , CM000664.1:g.233674511T>G	GRCh37
NC_000002.10:g.233382755T>G	NCBI36
NG_011847.1:g.117497T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1888T>G MANE Select	ENSP00000362664.5:p.Phe630Val
ENST00000676848.1:c.1234T>G	ENSP00000503313.1:p.Phe412Val
ENST00000677450.1:c.1369T>G	ENSP00000503420.1:p.Phe457Val
ENST00000677591.1:c.1144T>G	ENSP00000503061.1:p.Phe382Val
ENST00000678230.1:c.1381T>G	ENSP00000504272.1:p.Phe461Val
ENST00000678339.1:c.1144T>G	ENSP00000503437.1:p.Phe382Val
ENST00000678466.1:c.1144T>G	ENSP00000504219.1:p.Phe382Val
ENST00000678885.1:c.1144T>G	ENSP00000503563.1:p.Phe382Val
ENST00000373563.8:c.1888T>G	ENSP00000362664.4:p.Phe630Val
ENST00000409196.7:c.1870T>G	ENSP00000387070.3:p.Phe624Val
ENST00000409451.7:c.1951T>G	ENSP00000387170.3:p.Phe651Val
ENST00000409480.5:c.1954T>G	ENSP00000386765.1:p.Phe652Val
ENST00000409547.5:c.1888T>G	ENSP00000386537.1:p.Phe630Val
ENST00000423659.5:c.1717T>G	ENSP00000404195.1:p.Phe573Val
ENST00000440945.5:c.1870T>G	ENSP00000410297.1:p.Phe624Val
ENST00000482952.5:n.126T>G
ENST00000629305.2:c.1954T>G	ENSP00000487548.1:p.Phe652Val
NM_001103146.1:c.1888T>G	NP_001096616.1:p.Phe630Val
NM_001103147.1:c.1951T>G	NP_001096617.1:p.Phe651Val
NM_001103148.1:c.1870T>G	NP_001096618.1:p.Phe624Val
NM_015575.3:c.1888T>G	NP_056390.2:p.Phe630Val
NR_103492.1:n.2001T>G
NM_001103146.3:c.1888T>G MANE Select	NP_001096616.1:p.Phe630Val
NM_001103147.2:c.1951T>G	NP_001096617.1:p.Phe651Val
NM_001103148.2:c.1870T>G	NP_001096618.1:p.Phe624Val
NM_015575.4:c.1888T>G	NP_056390.2:p.Phe630Val