Canonical Allele Identifier: CA431807882

Gene: GIGYF2

Linked Data

• dbSNP Id: rs1700048904
• gnomAD v4: 2-232790828-C-T
• MyVariant Identifiers: chr2:g.233655538C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232790828C>T , CM000664.2:g.232790828C>T	GRCh38
NC_000002.11:g.233655538C>T , CM000664.1:g.233655538C>T	GRCh37
NC_000002.10:g.233363782C>T	NCBI36
NG_011847.1:g.98524C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.843C>T MANE Select	ENSP00000362664.5:p.Asp281=
ENST00000676848.1:c.189C>T	ENSP00000503313.1:p.Asp63=
ENST00000677450.1:c.324C>T	ENSP00000503420.1:p.Asp108=
ENST00000677591.1:c.99C>T	ENSP00000503061.1:p.Asp33=
ENST00000678230.1:c.336C>T	ENSP00000504272.1:p.Asp112=
ENST00000678339.1:c.99C>T	ENSP00000503437.1:p.Asp33=
ENST00000678466.1:c.99C>T	ENSP00000504219.1:p.Asp33=
ENST00000678885.1:c.99C>T	ENSP00000503563.1:p.Asp33=
ENST00000373563.8:c.843C>T	ENSP00000362664.4:p.Asp281=
ENST00000409196.7:c.825C>T	ENSP00000387070.3:p.Asp275=
ENST00000409451.7:c.909C>T	ENSP00000387170.3:p.Asp303=
ENST00000409480.5:c.909C>T	ENSP00000386765.1:p.Asp303=
ENST00000409547.5:c.843C>T	ENSP00000386537.1:p.Asp281=
ENST00000410033.1:c.189C>T	ENSP00000387276.1:p.Asp63=
ENST00000423659.5:c.672C>T	ENSP00000404195.1:p.Asp224=
ENST00000424414.6:c.99C>T	ENSP00000401261.2:p.Asp33=
ENST00000427649.5:c.99C>T	ENSP00000398055.1:p.Asp33=
ENST00000436349.5:c.99C>T	ENSP00000400076.1:p.Asp33=
ENST00000440945.5:c.825C>T	ENSP00000410297.1:p.Asp275=
ENST00000445650.5:c.336C>T	ENSP00000392218.1:p.Asp112=
ENST00000455139.5:c.99C>T	ENSP00000395299.1:p.Asp33=
ENST00000458528.1:c.107+82C>T	ENSP00000389322.1:n.107+82C>T
ENST00000629305.2:c.909C>T	ENSP00000487548.1:p.Asp303=
NM_001103146.1:c.843C>T	NP_001096616.1:p.Asp281=
NM_001103147.1:c.909C>T	NP_001096617.1:p.Asp303=
NM_001103148.1:c.825C>T	NP_001096618.1:p.Asp275=
NM_015575.3:c.843C>T	NP_056390.2:p.Asp281=
NR_103492.1:n.956C>T
NM_001103146.3:c.843C>T MANE Select	NP_001096616.1:p.Asp281=
NM_001103147.2:c.909C>T	NP_001096617.1:p.Asp303=
NM_001103148.2:c.825C>T	NP_001096618.1:p.Asp275=
NM_015575.4:c.843C>T	NP_056390.2:p.Asp281=