Canonical Allele Identifier: CA2170306

Gene: GIGYF2

Linked Data

• dbSNP Id: rs759400935
• ExAC: 2:233656144 A / G
• gnomAD v2: 2-233656144-A-G
• gnomAD v4: 2-232791434-A-G
• MyVariant Identifiers: chr2:g.233656144A>G (hg19) ; chr2:g.232791434A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232791434A>G , CM000664.2:g.232791434A>G	GRCh38
NC_000002.11:g.233656144A>G , CM000664.1:g.233656144A>G	GRCh37
NC_000002.10:g.233364388A>G	NCBI36
NG_011847.1:g.99130A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1270A>G MANE Select	ENSP00000362664.5:p.Ser424Gly
ENST00000676848.1:c.616A>G	ENSP00000503313.1:p.Ser206Gly
ENST00000677450.1:c.751A>G	ENSP00000503420.1:p.Ser251Gly
ENST00000677591.1:c.526A>G	ENSP00000503061.1:p.Ser176Gly
ENST00000678230.1:c.763A>G	ENSP00000504272.1:p.Ser255Gly
ENST00000678339.1:c.526A>G	ENSP00000503437.1:p.Ser176Gly
ENST00000678466.1:c.526A>G	ENSP00000504219.1:p.Ser176Gly
ENST00000678885.1:c.526A>G	ENSP00000503563.1:p.Ser176Gly
ENST00000373563.8:c.1270A>G	ENSP00000362664.4:p.Ser424Gly
ENST00000409196.7:c.1252A>G	ENSP00000387070.3:p.Ser418Gly
ENST00000409451.7:c.1333A>G	ENSP00000387170.3:p.Ser445Gly
ENST00000409480.5:c.1336A>G	ENSP00000386765.1:p.Ser446Gly
ENST00000409547.5:c.1270A>G	ENSP00000386537.1:p.Ser424Gly
ENST00000423659.5:c.1099A>G	ENSP00000404195.1:p.Ser367Gly
ENST00000440945.5:c.1252A>G	ENSP00000410297.1:p.Ser418Gly
ENST00000458528.1:c.*263A>G	ENSP00000389322.1:n.*263A>G
ENST00000629305.2:c.1336A>G	ENSP00000487548.1:p.Ser446Gly
NM_001103146.1:c.1270A>G	NP_001096616.1:p.Ser424Gly
NM_001103147.1:c.1333A>G	NP_001096617.1:p.Ser445Gly
NM_001103148.1:c.1252A>G	NP_001096618.1:p.Ser418Gly
NM_015575.3:c.1270A>G	NP_056390.2:p.Ser424Gly
NR_103492.1:n.1383A>G
NM_001103146.3:c.1270A>G MANE Select	NP_001096616.1:p.Ser424Gly
NM_001103147.2:c.1333A>G	NP_001096617.1:p.Ser445Gly
NM_001103148.2:c.1252A>G	NP_001096618.1:p.Ser418Gly
NM_015575.4:c.1270A>G	NP_056390.2:p.Ser424Gly