Canonical Allele Identifier: CA351018918

Gene: GIGYF2

Linked Data

• gnomAD v4: 2-232809771-T-A
• MyVariant Identifiers: chr2:g.233674481T>A (hg19) ; chr2:g.232809771T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232809771T>A , CM000664.2:g.232809771T>A	GRCh38
NC_000002.11:g.233674481T>A , CM000664.1:g.233674481T>A	GRCh37
NC_000002.10:g.233382725T>A	NCBI36
NG_011847.1:g.117467T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1858T>A MANE Select	ENSP00000362664.5:p.Tyr620Asn
ENST00000676848.1:c.1204T>A	ENSP00000503313.1:p.Tyr402Asn
ENST00000677450.1:c.1339T>A	ENSP00000503420.1:p.Tyr447Asn
ENST00000677591.1:c.1114T>A	ENSP00000503061.1:p.Tyr372Asn
ENST00000678230.1:c.1351T>A	ENSP00000504272.1:p.Tyr451Asn
ENST00000678339.1:c.1114T>A	ENSP00000503437.1:p.Tyr372Asn
ENST00000678466.1:c.1114T>A	ENSP00000504219.1:p.Tyr372Asn
ENST00000678885.1:c.1114T>A	ENSP00000503563.1:p.Tyr372Asn
ENST00000373563.8:c.1858T>A	ENSP00000362664.4:p.Tyr620Asn
ENST00000409196.7:c.1840T>A	ENSP00000387070.3:p.Tyr614Asn
ENST00000409451.7:c.1921T>A	ENSP00000387170.3:p.Tyr641Asn
ENST00000409480.5:c.1924T>A	ENSP00000386765.1:p.Tyr642Asn
ENST00000409547.5:c.1858T>A	ENSP00000386537.1:p.Tyr620Asn
ENST00000423659.5:c.1687T>A	ENSP00000404195.1:p.Tyr563Asn
ENST00000440945.5:c.1840T>A	ENSP00000410297.1:p.Tyr614Asn
ENST00000482952.5:n.96T>A
ENST00000629305.2:c.1924T>A	ENSP00000487548.1:p.Tyr642Asn
NM_001103146.1:c.1858T>A	NP_001096616.1:p.Tyr620Asn
NM_001103147.1:c.1921T>A	NP_001096617.1:p.Tyr641Asn
NM_001103148.1:c.1840T>A	NP_001096618.1:p.Tyr614Asn
NM_015575.3:c.1858T>A	NP_056390.2:p.Tyr620Asn
NR_103492.1:n.1971T>A
NM_001103146.3:c.1858T>A MANE Select	NP_001096616.1:p.Tyr620Asn
NM_001103147.2:c.1921T>A	NP_001096617.1:p.Tyr641Asn
NM_001103148.2:c.1840T>A	NP_001096618.1:p.Tyr614Asn
NM_015575.4:c.1858T>A	NP_056390.2:p.Tyr620Asn