Canonical Allele Identifier: CA431808180
Gene: GIGYF2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.233655622A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232790912A>C , CM000664.2:g.232790912A>C GRCh38
NC_000002.11:g.233655622A>C , CM000664.1:g.233655622A>C GRCh37
NC_000002.10:g.233363866A>C NCBI36
NG_011847.1:g.98608A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373563.9:c.927A>C MANE Select ENSP00000362664.5:p.Leu309=
ENST00000676848.1:c.273A>C ENSP00000503313.1:p.Leu91=
ENST00000677450.1:c.408A>C ENSP00000503420.1:p.Leu136=
ENST00000677591.1:c.183A>C ENSP00000503061.1:p.Leu61=
ENST00000678230.1:c.420A>C ENSP00000504272.1:p.Leu140=
ENST00000678339.1:c.183A>C ENSP00000503437.1:p.Leu61=
ENST00000678466.1:c.183A>C ENSP00000504219.1:p.Leu61=
ENST00000678885.1:c.183A>C ENSP00000503563.1:p.Leu61=
ENST00000373563.8:c.927A>C ENSP00000362664.4:p.Leu309=
ENST00000409196.7:c.909A>C ENSP00000387070.3:p.Leu303=
ENST00000409451.7:c.993A>C ENSP00000387170.3:p.Leu331=
ENST00000409480.5:c.993A>C ENSP00000386765.1:p.Leu331=
ENST00000409547.5:c.927A>C ENSP00000386537.1:p.Leu309=
ENST00000410033.1:c.273A>C ENSP00000387276.1:p.Leu91=
ENST00000423659.5:c.756A>C ENSP00000404195.1:p.Leu252=
ENST00000424414.6:c.183A>C ENSP00000401261.2:p.Leu61=
ENST00000427649.5:c.183A>C ENSP00000398055.1:p.Leu61=
ENST00000436349.5:c.183A>C ENSP00000400076.1:p.Leu61=
ENST00000440945.5:c.909A>C ENSP00000410297.1:p.Leu303=
ENST00000455139.5:c.183A>C ENSP00000395299.1:p.Leu61=
ENST00000458528.1:c.108-100A>C ENSP00000389322.1:n.108-100A>C
ENST00000629305.2:c.993A>C ENSP00000487548.1:p.Leu331=
NM_001103146.1:c.927A>C NP_001096616.1:p.Leu309=
NM_001103147.1:c.993A>C NP_001096617.1:p.Leu331=
NM_001103148.1:c.909A>C NP_001096618.1:p.Leu303=
NM_015575.3:c.927A>C NP_056390.2:p.Leu309=
NR_103492.1:n.1040A>C
NM_001103146.3:c.927A>C MANE Select NP_001096616.1:p.Leu309=
NM_001103147.2:c.993A>C NP_001096617.1:p.Leu331=
NM_001103148.2:c.909A>C NP_001096618.1:p.Leu303=
NM_015575.4:c.927A>C NP_056390.2:p.Leu309=