Canonical Allele Identifier: CA277509
Community Standard Title: NM_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val)
Gene: GIGYF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232819834C>T , CM000664.2:g.232819834C>T GRCh38
NC_000002.11:g.233684544C>T , CM000664.1:g.233684544C>T GRCh37
NC_000002.10:g.233392788C>T NCBI36
NG_011847.1:g.127530C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001103146.3:c.2378C>T MANE Select NP_001096616.1:p.Ala793Val
ENST00000373563.9:c.2378C>T MANE Select ENSP00000362664.5:p.Ala793Val
NM_001103146.1:c.2378C>T NP_001096616.1:p.Ala793Val
NM_001103147.1:c.2441C>T NP_001096617.1:p.Ala814Val
NM_001103147.2:c.2441C>T NP_001096617.1:p.Ala814Val
NM_001103148.1:c.2360C>T NP_001096618.1:p.Ala787Val
NM_001103148.2:c.2360C>T NP_001096618.1:p.Ala787Val
NM_015575.3:c.2378C>T NP_056390.2:p.Ala793Val
NM_015575.4:c.2378C>T NP_056390.2:p.Ala793Val
NR_103492.1:n.2491C>T
ENST00000373563.8:c.2378C>T ENSP00000362664.4:p.Ala793Val
ENST00000409196.7:c.2360C>T ENSP00000387070.3:p.Ala787Val
ENST00000409451.7:c.2441C>T ENSP00000387170.3:p.Ala814Val
ENST00000409480.5:c.2444C>T ENSP00000386765.1:p.Ala815Val
ENST00000409547.5:c.2378C>T ENSP00000386537.1:p.Ala793Val
ENST00000440945.5:c.2360C>T ENSP00000410297.1:p.Ala787Val
ENST00000474312.5:n.1413C>T
ENST00000629305.2:c.2444C>T ENSP00000487548.1:p.Ala815Val
ENST00000676848.1:c.1724C>T ENSP00000503313.1:p.Ala575Val
ENST00000677450.1:c.1859C>T ENSP00000503420.1:p.Ala620Val
ENST00000677591.1:c.1634C>T ENSP00000503061.1:p.Ala545Val
ENST00000678230.1:c.1871C>T ENSP00000504272.1:p.Ala624Val
ENST00000678339.1:c.1634C>T ENSP00000503437.1:p.Ala545Val
ENST00000678466.1:c.1634C>T ENSP00000504219.1:p.Ala545Val
ENST00000678885.1:c.1634C>T ENSP00000503563.1:p.Ala545Val