Canonical Allele Identifier: CA431809993

Gene: GIGYF2

Linked Data

• dbSNP Id: rs1291346024
• gnomAD v2: 2-233674465-A-G
• gnomAD v3: 2-232809755-A-G
• gnomAD v4: 2-232809755-A-G
• MyVariant Identifiers: chr2:g.233674465A>G (hg19) ; chr2:g.232809755A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232809755A>G , CM000664.2:g.232809755A>G	GRCh38
NC_000002.11:g.233674465A>G , CM000664.1:g.233674465A>G	GRCh37
NC_000002.10:g.233382709A>G	NCBI36
NG_011847.1:g.117451A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1842A>G MANE Select	ENSP00000362664.5:p.Gln614=
ENST00000676848.1:c.1188A>G	ENSP00000503313.1:p.Gln396=
ENST00000677450.1:c.1323A>G	ENSP00000503420.1:p.Gln441=
ENST00000677591.1:c.1098A>G	ENSP00000503061.1:p.Gln366=
ENST00000678230.1:c.1335A>G	ENSP00000504272.1:p.Gln445=
ENST00000678339.1:c.1098A>G	ENSP00000503437.1:p.Gln366=
ENST00000678466.1:c.1098A>G	ENSP00000504219.1:p.Gln366=
ENST00000678885.1:c.1098A>G	ENSP00000503563.1:p.Gln366=
ENST00000373563.8:c.1842A>G	ENSP00000362664.4:p.Gln614=
ENST00000409196.7:c.1824A>G	ENSP00000387070.3:p.Gln608=
ENST00000409451.7:c.1905A>G	ENSP00000387170.3:p.Gln635=
ENST00000409480.5:c.1908A>G	ENSP00000386765.1:p.Gln636=
ENST00000409547.5:c.1842A>G	ENSP00000386537.1:p.Gln614=
ENST00000423659.5:c.1671A>G	ENSP00000404195.1:p.Gln557=
ENST00000440945.5:c.1824A>G	ENSP00000410297.1:p.Gln608=
ENST00000482952.5:n.80A>G
ENST00000629305.2:c.1908A>G	ENSP00000487548.1:p.Gln636=
NM_001103146.1:c.1842A>G	NP_001096616.1:p.Gln614=
NM_001103147.1:c.1905A>G	NP_001096617.1:p.Gln635=
NM_001103148.1:c.1824A>G	NP_001096618.1:p.Gln608=
NM_015575.3:c.1842A>G	NP_056390.2:p.Gln614=
NR_103492.1:n.1955A>G
NM_001103146.3:c.1842A>G MANE Select	NP_001096616.1:p.Gln614=
NM_001103147.2:c.1905A>G	NP_001096617.1:p.Gln635=
NM_001103148.2:c.1824A>G	NP_001096618.1:p.Gln608=
NM_015575.4:c.1842A>G	NP_056390.2:p.Gln614=