Canonical Allele Identifier: CA3520956
Gene: FAT2 HGNC NCBI
SLC36A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151543664G>A , CM000667.2:g.151543664G>A GRCh38
NC_000005.9:g.150923225G>A , CM000667.1:g.150923225G>A GRCh37
NC_000005.8:g.150903418G>A NCBI36
NG_046979.1:g.113477C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261800.6:c.7463C>T (FAT2) MANE Select ENSP00000261800.5:p.Ala2488Val
ENST00000261800.5:c.7463C>T (FAT2) ENSP00000261800.5:p.Ala2488Val
NM_001447.2:c.7463C>T (FAT2) NP_001438.1:p.Ala2488Val
XM_006714761.2:c.7463C>T (FAT2) XP_006714824.1:p.Ala2488Val
XM_011537598.1:c.7463C>T (FAT2) XP_011535900.1:p.Ala2488Val
XM_011537599.1:c.7463C>T (FAT2) XP_011535901.1:p.Ala2488Val
XM_011537600.1:c.7463C>T (FAT2) XP_011535902.1:p.Ala2488Val
XM_011537601.1:c.7463C>T (FAT2) XP_011535903.1:p.Ala2488Val
XM_011537602.1:c.7463C>T (FAT2) XP_011535904.1:p.Ala2488Val
XM_011537603.1:c.7463C>T (FAT2) XP_011535905.1:p.Ala2488Val
XM_011537604.1:c.7463C>T (FAT2) XP_011535906.1:p.Ala2488Val
XM_011537605.1:c.7463C>T (FAT2) XP_011535907.1:p.Ala2488Val
XM_011537606.1:c.7463C>T (FAT2) XP_011535908.1:p.Ala2488Val
XR_944309.1:n.1594+4369G>A (SLC36A1)
XR_944310.1:n.8026C>T (FAT2)
XM_006714761.3:c.7463C>T (FAT2) XP_006714824.1:p.Ala2488Val
XM_011537595.2:c.1220+4369G>A (SLC36A1) XP_011535897.2:n.1220+4369G>A
XM_011537600.2:c.7463C>T (FAT2) XP_011535902.1:p.Ala2488Val
XM_011537603.2:c.7463C>T (FAT2) XP_011535905.1:p.Ala2488Val
XM_017009217.1:c.1202+4369G>A (SLC36A1) XP_016864706.1:n.1202+4369G>A
XM_017009224.1:c.7463C>T (FAT2) XP_016864713.1:p.Ala2488Val
XM_017009225.1:c.7463C>T (FAT2) XP_016864714.1:p.Ala2488Val
XM_017009227.1:c.7463C>T (FAT2) XP_016864716.1:p.Ala2488Val
XM_024446001.1:c.1202+4369G>A (SLC36A1) XP_024301769.1:n.1202+4369G>A
XR_001742039.1:n.8051C>T (FAT2)
XR_002956152.1:n.8051C>T (FAT2)
NM_001447.3:c.7463C>T (FAT2) MANE Select NP_001438.1:p.Ala2488Val