Canonical Allele Identifier: CA351018806

Gene: GIGYF2

Linked Data

• gnomAD v4: 2-232809745-C-T
• MyVariant Identifiers: chr2:g.233674455C>T (hg19) ; chr2:g.232809745C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232809745C>T , CM000664.2:g.232809745C>T	GRCh38
NC_000002.11:g.233674455C>T , CM000664.1:g.233674455C>T	GRCh37
NC_000002.10:g.233382699C>T	NCBI36
NG_011847.1:g.117441C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1832C>T MANE Select	ENSP00000362664.5:p.Thr611Ile
ENST00000676848.1:c.1178C>T	ENSP00000503313.1:p.Thr393Ile
ENST00000677450.1:c.1313C>T	ENSP00000503420.1:p.Thr438Ile
ENST00000677591.1:c.1088C>T	ENSP00000503061.1:p.Thr363Ile
ENST00000678230.1:c.1325C>T	ENSP00000504272.1:p.Thr442Ile
ENST00000678339.1:c.1088C>T	ENSP00000503437.1:p.Thr363Ile
ENST00000678466.1:c.1088C>T	ENSP00000504219.1:p.Thr363Ile
ENST00000678885.1:c.1088C>T	ENSP00000503563.1:p.Thr363Ile
ENST00000373563.8:c.1832C>T	ENSP00000362664.4:p.Thr611Ile
ENST00000409196.7:c.1814C>T	ENSP00000387070.3:p.Thr605Ile
ENST00000409451.7:c.1895C>T	ENSP00000387170.3:p.Thr632Ile
ENST00000409480.5:c.1898C>T	ENSP00000386765.1:p.Thr633Ile
ENST00000409547.5:c.1832C>T	ENSP00000386537.1:p.Thr611Ile
ENST00000423659.5:c.1661C>T	ENSP00000404195.1:p.Thr554Ile
ENST00000440945.5:c.1814C>T	ENSP00000410297.1:p.Thr605Ile
ENST00000482952.5:n.70C>T
ENST00000629305.2:c.1898C>T	ENSP00000487548.1:p.Thr633Ile
NM_001103146.1:c.1832C>T	NP_001096616.1:p.Thr611Ile
NM_001103147.1:c.1895C>T	NP_001096617.1:p.Thr632Ile
NM_001103148.1:c.1814C>T	NP_001096618.1:p.Thr605Ile
NM_015575.3:c.1832C>T	NP_056390.2:p.Thr611Ile
NR_103492.1:n.1945C>T
NM_001103146.3:c.1832C>T MANE Select	NP_001096616.1:p.Thr611Ile
NM_001103147.2:c.1895C>T	NP_001096617.1:p.Thr632Ile
NM_001103148.2:c.1814C>T	NP_001096618.1:p.Thr605Ile
NM_015575.4:c.1832C>T	NP_056390.2:p.Thr611Ile