Canonical Allele Identifier: CA3520205
Gene: FAT2 HGNC NCBI
SLC36A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151522036G>C , CM000667.2:g.151522036G>C GRCh38
NC_000005.9:g.150901597G>C , CM000667.1:g.150901597G>C GRCh37
NC_000005.8:g.150881790G>C NCBI36
NG_046979.1:g.135105C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261800.6:c.10557C>G (FAT2) MANE Select ENSP00000261800.5:p.Val3519=
ENST00000261800.5:c.10557C>G (FAT2) ENSP00000261800.5:p.Val3519=
ENST00000520200.5:c.1132C>G (FAT2)
NM_001447.2:c.10557C>G (FAT2) NP_001438.1:p.Val3519=
XM_006714761.2:c.10557C>G (FAT2) XP_006714824.1:p.Val3519=
XM_011537595.1:c.1253-17217G>C (SLC36A1) XP_011535897.1:n.1253-17217G>C
XM_011537598.1:c.10557C>G (FAT2) XP_011535900.1:p.Val3519=
XM_011537599.1:c.10557C>G (FAT2) XP_011535901.1:p.Val3519=
XM_011537600.1:c.10557C>G (FAT2) XP_011535902.1:p.Val3519=
XM_011537601.1:c.10557C>G (FAT2) XP_011535903.1:p.Val3519=
XM_011537602.1:c.10557C>G (FAT2) XP_011535904.1:p.Val3519=
XM_011537603.1:c.10557C>G (FAT2) XP_011535905.1:p.Val3519=
XM_011537604.1:c.10557C>G (FAT2) XP_011535906.1:p.Val3519=
XM_011537605.1:c.10557C>G (FAT2) XP_011535907.1:p.Val3519=
XR_944309.1:n.1552-17217G>C (SLC36A1)
XM_006714761.3:c.10557C>G (FAT2) XP_006714824.1:p.Val3519=
XM_011537595.2:c.1178-17217G>C (SLC36A1) XP_011535897.2:n.1178-17217G>C
XM_011537600.2:c.10557C>G (FAT2) XP_011535902.1:p.Val3519=
XM_011537603.2:c.10557C>G (FAT2) XP_011535905.1:p.Val3519=
XM_017009217.1:c.1160-17217G>C (SLC36A1) XP_016864706.1:n.1160-17217G>C
XM_017009219.2:c.926-17217G>C (SLC36A1) XP_016864708.1:n.926-17217G>C
XM_017009224.1:c.10557C>G (FAT2) XP_016864713.1:p.Val3519=
XM_017009225.1:c.10557C>G (FAT2) XP_016864714.1:p.Val3519=
XM_024446001.1:c.1160-17217G>C (SLC36A1) XP_024301769.1:n.1160-17217G>C
XR_001742039.1:n.11145C>G (FAT2)
NM_001447.3:c.10557C>G (FAT2) MANE Select NP_001438.1:p.Val3519=