Canonical Allele Identifier: CA351011508

Gene: GIGYF2

Linked Data

• gnomAD v4: 2-232790910-C-G
• MyVariant Identifiers: chr2:g.233655620C>G (hg19) ; chr2:g.232790910C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232790910C>G , CM000664.2:g.232790910C>G	GRCh38
NC_000002.11:g.233655620C>G , CM000664.1:g.233655620C>G	GRCh37
NC_000002.10:g.233363864C>G	NCBI36
NG_011847.1:g.98606C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.925C>G MANE Select	ENSP00000362664.5:p.Leu309Val
ENST00000676848.1:c.271C>G	ENSP00000503313.1:p.Leu91Val
ENST00000677450.1:c.406C>G	ENSP00000503420.1:p.Leu136Val
ENST00000677591.1:c.181C>G	ENSP00000503061.1:p.Leu61Val
ENST00000678230.1:c.418C>G	ENSP00000504272.1:p.Leu140Val
ENST00000678339.1:c.181C>G	ENSP00000503437.1:p.Leu61Val
ENST00000678466.1:c.181C>G	ENSP00000504219.1:p.Leu61Val
ENST00000678885.1:c.181C>G	ENSP00000503563.1:p.Leu61Val
ENST00000373563.8:c.925C>G	ENSP00000362664.4:p.Leu309Val
ENST00000409196.7:c.907C>G	ENSP00000387070.3:p.Leu303Val
ENST00000409451.7:c.991C>G	ENSP00000387170.3:p.Leu331Val
ENST00000409480.5:c.991C>G	ENSP00000386765.1:p.Leu331Val
ENST00000409547.5:c.925C>G	ENSP00000386537.1:p.Leu309Val
ENST00000410033.1:c.271C>G	ENSP00000387276.1:p.Leu91Val
ENST00000423659.5:c.754C>G	ENSP00000404195.1:p.Leu252Val
ENST00000424414.6:c.181C>G	ENSP00000401261.2:p.Leu61Val
ENST00000427649.5:c.181C>G	ENSP00000398055.1:p.Leu61Val
ENST00000436349.5:c.181C>G	ENSP00000400076.1:p.Leu61Val
ENST00000440945.5:c.907C>G	ENSP00000410297.1:p.Leu303Val
ENST00000455139.5:c.181C>G	ENSP00000395299.1:p.Leu61Val
ENST00000458528.1:c.108-102C>G	ENSP00000389322.1:n.108-102C>G
ENST00000629305.2:c.991C>G	ENSP00000487548.1:p.Leu331Val
NM_001103146.1:c.925C>G	NP_001096616.1:p.Leu309Val
NM_001103147.1:c.991C>G	NP_001096617.1:p.Leu331Val
NM_001103148.1:c.907C>G	NP_001096618.1:p.Leu303Val
NM_015575.3:c.925C>G	NP_056390.2:p.Leu309Val
NR_103492.1:n.1038C>G
NM_001103146.3:c.925C>G MANE Select	NP_001096616.1:p.Leu309Val
NM_001103147.2:c.991C>G	NP_001096617.1:p.Leu331Val
NM_001103148.2:c.907C>G	NP_001096618.1:p.Leu303Val
NM_015575.4:c.925C>G	NP_056390.2:p.Leu309Val