Canonical Allele Identifier: CA351011399
Gene: GIGYF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232790876G>T , CM000664.2:g.232790876G>T GRCh38
NC_000002.11:g.233655586G>T , CM000664.1:g.233655586G>T GRCh37
NC_000002.10:g.233363830G>T NCBI36
NG_011847.1:g.98572G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373563.9:c.891G>T MANE Select ENSP00000362664.5:p.Met297Ile
ENST00000676848.1:c.237G>T ENSP00000503313.1:p.Met79Ile
ENST00000677450.1:c.372G>T ENSP00000503420.1:p.Met124Ile
ENST00000677591.1:c.147G>T ENSP00000503061.1:p.Met49Ile
ENST00000678230.1:c.384G>T ENSP00000504272.1:p.Met128Ile
ENST00000678339.1:c.147G>T ENSP00000503437.1:p.Met49Ile
ENST00000678466.1:c.147G>T ENSP00000504219.1:p.Met49Ile
ENST00000678885.1:c.147G>T ENSP00000503563.1:p.Met49Ile
ENST00000373563.8:c.891G>T ENSP00000362664.4:p.Met297Ile
ENST00000409196.7:c.873G>T ENSP00000387070.3:p.Met291Ile
ENST00000409451.7:c.957G>T ENSP00000387170.3:p.Met319Ile
ENST00000409480.5:c.957G>T ENSP00000386765.1:p.Met319Ile
ENST00000409547.5:c.891G>T ENSP00000386537.1:p.Met297Ile
ENST00000410033.1:c.237G>T ENSP00000387276.1:p.Met79Ile
ENST00000423659.5:c.720G>T ENSP00000404195.1:p.Met240Ile
ENST00000424414.6:c.147G>T ENSP00000401261.2:p.Met49Ile
ENST00000427649.5:c.147G>T ENSP00000398055.1:p.Met49Ile
ENST00000436349.5:c.147G>T ENSP00000400076.1:p.Met49Ile
ENST00000440945.5:c.873G>T ENSP00000410297.1:p.Met291Ile
ENST00000455139.5:c.147G>T ENSP00000395299.1:p.Met49Ile
ENST00000458528.1:c.107+130G>T ENSP00000389322.1:n.107+130G>T
ENST00000629305.2:c.957G>T ENSP00000487548.1:p.Met319Ile
NM_001103146.1:c.891G>T NP_001096616.1:p.Met297Ile
NM_001103147.1:c.957G>T NP_001096617.1:p.Met319Ile
NM_001103148.1:c.873G>T NP_001096618.1:p.Met291Ile
NM_015575.3:c.891G>T NP_056390.2:p.Met297Ile
NR_103492.1:n.1004G>T
NM_001103146.3:c.891G>T MANE Select NP_001096616.1:p.Met297Ile
NM_001103147.2:c.957G>T NP_001096617.1:p.Met319Ile
NM_001103148.2:c.873G>T NP_001096618.1:p.Met291Ile
NM_015575.4:c.891G>T NP_056390.2:p.Met297Ile