Canonical Allele Identifier: CA66996307

Gene: GIGYF2

Linked Data

• dbSNP Id: rs145573686
• gnomAD v4: 2-232809785-C-T
• MyVariant Identifiers: chr2:g.233674495C>T (hg19) ; chr2:g.232809785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232809785C>T , CM000664.2:g.232809785C>T	GRCh38
NC_000002.11:g.233674495C>T , CM000664.1:g.233674495C>T	GRCh37
NC_000002.10:g.233382739C>T	NCBI36
NG_011847.1:g.117481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1872C>T MANE Select	ENSP00000362664.5:p.His624=
ENST00000676848.1:c.1218C>T	ENSP00000503313.1:p.His406=
ENST00000677450.1:c.1353C>T	ENSP00000503420.1:p.His451=
ENST00000677591.1:c.1128C>T	ENSP00000503061.1:p.His376=
ENST00000678230.1:c.1365C>T	ENSP00000504272.1:p.His455=
ENST00000678339.1:c.1128C>T	ENSP00000503437.1:p.His376=
ENST00000678466.1:c.1128C>T	ENSP00000504219.1:p.His376=
ENST00000678885.1:c.1128C>T	ENSP00000503563.1:p.His376=
ENST00000373563.8:c.1872C>T	ENSP00000362664.4:p.His624=
ENST00000409196.7:c.1854C>T	ENSP00000387070.3:p.His618=
ENST00000409451.7:c.1935C>T	ENSP00000387170.3:p.His645=
ENST00000409480.5:c.1938C>T	ENSP00000386765.1:p.His646=
ENST00000409547.5:c.1872C>T	ENSP00000386537.1:p.His624=
ENST00000423659.5:c.1701C>T	ENSP00000404195.1:p.His567=
ENST00000440945.5:c.1854C>T	ENSP00000410297.1:p.His618=
ENST00000482952.5:n.110C>T
ENST00000629305.2:c.1938C>T	ENSP00000487548.1:p.His646=
NM_001103146.1:c.1872C>T	NP_001096616.1:p.His624=
NM_001103147.1:c.1935C>T	NP_001096617.1:p.His645=
NM_001103148.1:c.1854C>T	NP_001096618.1:p.His618=
NM_015575.3:c.1872C>T	NP_056390.2:p.His624=
NR_103492.1:n.1985C>T
NM_001103146.3:c.1872C>T MANE Select	NP_001096616.1:p.His624=
NM_001103147.2:c.1935C>T	NP_001096617.1:p.His645=
NM_001103148.2:c.1854C>T	NP_001096618.1:p.His618=
NM_015575.4:c.1872C>T	NP_056390.2:p.His624=