Canonical Allele Identifier: CA351014072

Gene: GIGYF2

Linked Data

• MyVariant Identifiers: chr2:g.233656145G>T (hg19) ; chr2:g.232791435G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232791435G>T , CM000664.2:g.232791435G>T	GRCh38
NC_000002.11:g.233656145G>T , CM000664.1:g.233656145G>T	GRCh37
NC_000002.10:g.233364389G>T	NCBI36
NG_011847.1:g.99131G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1271G>T MANE Select	ENSP00000362664.5:p.Ser424Ile
ENST00000676848.1:c.617G>T	ENSP00000503313.1:p.Ser206Ile
ENST00000677450.1:c.752G>T	ENSP00000503420.1:p.Ser251Ile
ENST00000677591.1:c.527G>T	ENSP00000503061.1:p.Ser176Ile
ENST00000678230.1:c.764G>T	ENSP00000504272.1:p.Ser255Ile
ENST00000678339.1:c.527G>T	ENSP00000503437.1:p.Ser176Ile
ENST00000678466.1:c.527G>T	ENSP00000504219.1:p.Ser176Ile
ENST00000678885.1:c.527G>T	ENSP00000503563.1:p.Ser176Ile
ENST00000373563.8:c.1271G>T	ENSP00000362664.4:p.Ser424Ile
ENST00000409196.7:c.1253G>T	ENSP00000387070.3:p.Ser418Ile
ENST00000409451.7:c.1334G>T	ENSP00000387170.3:p.Ser445Ile
ENST00000409480.5:c.1337G>T	ENSP00000386765.1:p.Ser446Ile
ENST00000409547.5:c.1271G>T	ENSP00000386537.1:p.Ser424Ile
ENST00000423659.5:c.1100G>T	ENSP00000404195.1:p.Ser367Ile
ENST00000440945.5:c.1253G>T	ENSP00000410297.1:p.Ser418Ile
ENST00000458528.1:c.*264G>T	ENSP00000389322.1:n.*264G>T
ENST00000629305.2:c.1337G>T	ENSP00000487548.1:p.Ser446Ile
NM_001103146.1:c.1271G>T	NP_001096616.1:p.Ser424Ile
NM_001103147.1:c.1334G>T	NP_001096617.1:p.Ser445Ile
NM_001103148.1:c.1253G>T	NP_001096618.1:p.Ser418Ile
NM_015575.3:c.1271G>T	NP_056390.2:p.Ser424Ile
NR_103492.1:n.1384G>T
NM_001103146.3:c.1271G>T MANE Select	NP_001096616.1:p.Ser424Ile
NM_001103147.2:c.1334G>T	NP_001096617.1:p.Ser445Ile
NM_001103148.2:c.1253G>T	NP_001096618.1:p.Ser418Ile
NM_015575.4:c.1271G>T	NP_056390.2:p.Ser424Ile