Canonical Allele Identifier: CA431808293

Gene: GIGYF2

Linked Data

• dbSNP Id: rs1183764713
• gnomAD v3: 2-232791436-C-T
• gnomAD v4: 2-232791436-C-T
• MyVariant Identifiers: chr2:g.233656146C>T (hg19) ; chr2:g.232791436C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232791436C>T , CM000664.2:g.232791436C>T	GRCh38
NC_000002.11:g.233656146C>T , CM000664.1:g.233656146C>T	GRCh37
NC_000002.10:g.233364390C>T	NCBI36
NG_011847.1:g.99132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1272C>T MANE Select	ENSP00000362664.5:p.Ser424=
ENST00000676848.1:c.618C>T	ENSP00000503313.1:p.Ser206=
ENST00000677450.1:c.753C>T	ENSP00000503420.1:p.Ser251=
ENST00000677591.1:c.528C>T	ENSP00000503061.1:p.Ser176=
ENST00000678230.1:c.765C>T	ENSP00000504272.1:p.Ser255=
ENST00000678339.1:c.528C>T	ENSP00000503437.1:p.Ser176=
ENST00000678466.1:c.528C>T	ENSP00000504219.1:p.Ser176=
ENST00000678885.1:c.528C>T	ENSP00000503563.1:p.Ser176=
ENST00000373563.8:c.1272C>T	ENSP00000362664.4:p.Ser424=
ENST00000409196.7:c.1254C>T	ENSP00000387070.3:p.Ser418=
ENST00000409451.7:c.1335C>T	ENSP00000387170.3:p.Ser445=
ENST00000409480.5:c.1338C>T	ENSP00000386765.1:p.Ser446=
ENST00000409547.5:c.1272C>T	ENSP00000386537.1:p.Ser424=
ENST00000423659.5:c.1101C>T	ENSP00000404195.1:p.Ser367=
ENST00000440945.5:c.1254C>T	ENSP00000410297.1:p.Ser418=
ENST00000458528.1:c.*265C>T	ENSP00000389322.1:n.*265C>T
ENST00000629305.2:c.1338C>T	ENSP00000487548.1:p.Ser446=
NM_001103146.1:c.1272C>T	NP_001096616.1:p.Ser424=
NM_001103147.1:c.1335C>T	NP_001096617.1:p.Ser445=
NM_001103148.1:c.1254C>T	NP_001096618.1:p.Ser418=
NM_015575.3:c.1272C>T	NP_056390.2:p.Ser424=
NR_103492.1:n.1385C>T
NM_001103146.3:c.1272C>T MANE Select	NP_001096616.1:p.Ser424=
NM_001103147.2:c.1335C>T	NP_001096617.1:p.Ser445=
NM_001103148.2:c.1254C>T	NP_001096618.1:p.Ser418=
NM_015575.4:c.1272C>T	NP_056390.2:p.Ser424=