Canonical Allele Identifier: CA431954226

Gene: GIGYF2

Linked Data

• dbSNP Id: rs1700051467
• gnomAD v3: 2-232790915-A-G
• gnomAD v4: 2-232790915-A-G
• MyVariant Identifiers: chr2:g.233655625A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232790915A>G , CM000664.2:g.232790915A>G	GRCh38
NC_000002.11:g.233655625A>G , CM000664.1:g.233655625A>G	GRCh37
NC_000002.10:g.233363869A>G	NCBI36
NG_011847.1:g.98611A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.930A>G MANE Select	ENSP00000362664.5:p.Lys310=
ENST00000676848.1:c.276A>G	ENSP00000503313.1:p.Lys92=
ENST00000677450.1:c.411A>G	ENSP00000503420.1:p.Lys137=
ENST00000677591.1:c.186A>G	ENSP00000503061.1:p.Lys62=
ENST00000678230.1:c.423A>G	ENSP00000504272.1:p.Lys141=
ENST00000678339.1:c.186A>G	ENSP00000503437.1:p.Lys62=
ENST00000678466.1:c.186A>G	ENSP00000504219.1:p.Lys62=
ENST00000678885.1:c.186A>G	ENSP00000503563.1:p.Lys62=
ENST00000373563.8:c.930A>G	ENSP00000362664.4:p.Lys310=
ENST00000409196.7:c.912A>G	ENSP00000387070.3:p.Lys304=
ENST00000409451.7:c.996A>G	ENSP00000387170.3:p.Lys332=
ENST00000409480.5:c.996A>G	ENSP00000386765.1:p.Lys332=
ENST00000409547.5:c.930A>G	ENSP00000386537.1:p.Lys310=
ENST00000410033.1:c.276A>G	ENSP00000387276.1:p.Lys92=
ENST00000423659.5:c.759A>G	ENSP00000404195.1:p.Lys253=
ENST00000424414.6:c.186A>G	ENSP00000401261.2:p.Lys62=
ENST00000427649.5:c.186A>G	ENSP00000398055.1:p.Lys62=
ENST00000436349.5:c.186A>G	ENSP00000400076.1:p.Lys62=
ENST00000440945.5:c.912A>G	ENSP00000410297.1:p.Lys304=
ENST00000455139.5:c.186A>G	ENSP00000395299.1:p.Lys62=
ENST00000458528.1:c.108-97A>G	ENSP00000389322.1:n.108-97A>G
ENST00000629305.2:c.996A>G	ENSP00000487548.1:p.Lys332=
NM_001103146.1:c.930A>G	NP_001096616.1:p.Lys310=
NM_001103147.1:c.996A>G	NP_001096617.1:p.Lys332=
NM_001103148.1:c.912A>G	NP_001096618.1:p.Lys304=
NM_015575.3:c.930A>G	NP_056390.2:p.Lys310=
NR_103492.1:n.1043A>G
NM_001103146.3:c.930A>G MANE Select	NP_001096616.1:p.Lys310=
NM_001103147.2:c.996A>G	NP_001096617.1:p.Lys332=
NM_001103148.2:c.912A>G	NP_001096618.1:p.Lys304=
NM_015575.4:c.930A>G	NP_056390.2:p.Lys310=