Canonical Allele Identifier: CA351018865

Gene: GIGYF2

Linked Data

• MyVariant Identifiers: chr2:g.233674468A>C (hg19) ; chr2:g.232809758A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232809758A>C , CM000664.2:g.232809758A>C	GRCh38
NC_000002.11:g.233674468A>C , CM000664.1:g.233674468A>C	GRCh37
NC_000002.10:g.233382712A>C	NCBI36
NG_011847.1:g.117454A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1845A>C MANE Select	ENSP00000362664.5:p.Glu615Asp
ENST00000676848.1:c.1191A>C	ENSP00000503313.1:p.Glu397Asp
ENST00000677450.1:c.1326A>C	ENSP00000503420.1:p.Glu442Asp
ENST00000677591.1:c.1101A>C	ENSP00000503061.1:p.Glu367Asp
ENST00000678230.1:c.1338A>C	ENSP00000504272.1:p.Glu446Asp
ENST00000678339.1:c.1101A>C	ENSP00000503437.1:p.Glu367Asp
ENST00000678466.1:c.1101A>C	ENSP00000504219.1:p.Glu367Asp
ENST00000678885.1:c.1101A>C	ENSP00000503563.1:p.Glu367Asp
ENST00000373563.8:c.1845A>C	ENSP00000362664.4:p.Glu615Asp
ENST00000409196.7:c.1827A>C	ENSP00000387070.3:p.Glu609Asp
ENST00000409451.7:c.1908A>C	ENSP00000387170.3:p.Glu636Asp
ENST00000409480.5:c.1911A>C	ENSP00000386765.1:p.Glu637Asp
ENST00000409547.5:c.1845A>C	ENSP00000386537.1:p.Glu615Asp
ENST00000423659.5:c.1674A>C	ENSP00000404195.1:p.Glu558Asp
ENST00000440945.5:c.1827A>C	ENSP00000410297.1:p.Glu609Asp
ENST00000482952.5:n.83A>C
ENST00000629305.2:c.1911A>C	ENSP00000487548.1:p.Glu637Asp
NM_001103146.1:c.1845A>C	NP_001096616.1:p.Glu615Asp
NM_001103147.1:c.1908A>C	NP_001096617.1:p.Glu636Asp
NM_001103148.1:c.1827A>C	NP_001096618.1:p.Glu609Asp
NM_015575.3:c.1845A>C	NP_056390.2:p.Glu615Asp
NR_103492.1:n.1958A>C
NM_001103146.3:c.1845A>C MANE Select	NP_001096616.1:p.Glu615Asp
NM_001103147.2:c.1908A>C	NP_001096617.1:p.Glu636Asp
NM_001103148.2:c.1827A>C	NP_001096618.1:p.Glu609Asp
NM_015575.4:c.1845A>C	NP_056390.2:p.Glu615Asp