Canonical Allele Identifier: CA351018753

Gene: GIGYF2

Linked Data

• gnomAD v4: 2-232809733-A-T
• MyVariant Identifiers: chr2:g.233674443A>T (hg19) ; chr2:g.232809733A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232809733A>T , CM000664.2:g.232809733A>T	GRCh38
NC_000002.11:g.233674443A>T , CM000664.1:g.233674443A>T	GRCh37
NC_000002.10:g.233382687A>T	NCBI36
NG_011847.1:g.117429A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1820A>T MANE Select	ENSP00000362664.5:p.Gln607Leu
ENST00000676848.1:c.1166A>T	ENSP00000503313.1:p.Gln389Leu
ENST00000677450.1:c.1301A>T	ENSP00000503420.1:p.Gln434Leu
ENST00000677591.1:c.1076A>T	ENSP00000503061.1:p.Gln359Leu
ENST00000678230.1:c.1313A>T	ENSP00000504272.1:p.Gln438Leu
ENST00000678339.1:c.1076A>T	ENSP00000503437.1:p.Gln359Leu
ENST00000678466.1:c.1076A>T	ENSP00000504219.1:p.Gln359Leu
ENST00000678885.1:c.1076A>T	ENSP00000503563.1:p.Gln359Leu
ENST00000373563.8:c.1820A>T	ENSP00000362664.4:p.Gln607Leu
ENST00000409196.7:c.1802A>T	ENSP00000387070.3:p.Gln601Leu
ENST00000409451.7:c.1883A>T	ENSP00000387170.3:p.Gln628Leu
ENST00000409480.5:c.1886A>T	ENSP00000386765.1:p.Gln629Leu
ENST00000409547.5:c.1820A>T	ENSP00000386537.1:p.Gln607Leu
ENST00000423659.5:c.1649A>T	ENSP00000404195.1:p.Gln550Leu
ENST00000440945.5:c.1802A>T	ENSP00000410297.1:p.Gln601Leu
ENST00000482952.5:n.58A>T
ENST00000629305.2:c.1886A>T	ENSP00000487548.1:p.Gln629Leu
NM_001103146.1:c.1820A>T	NP_001096616.1:p.Gln607Leu
NM_001103147.1:c.1883A>T	NP_001096617.1:p.Gln628Leu
NM_001103148.1:c.1802A>T	NP_001096618.1:p.Gln601Leu
NM_015575.3:c.1820A>T	NP_056390.2:p.Gln607Leu
NR_103492.1:n.1933A>T
NM_001103146.3:c.1820A>T MANE Select	NP_001096616.1:p.Gln607Leu
NM_001103147.2:c.1883A>T	NP_001096617.1:p.Gln628Leu
NM_001103148.2:c.1802A>T	NP_001096618.1:p.Gln601Leu
NM_015575.4:c.1820A>T	NP_056390.2:p.Gln607Leu