Canonical Allele Identifier: CA15391355
Community Standard Title: NM_001447.3(FAT2):c.11905+182T>C
Gene: FAT2 HGNC NCBI
SLC36A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151511983A>G , CM000667.2:g.151511983A>G GRCh38
NC_000005.9:g.150891544A>G , CM000667.1:g.150891544A>G GRCh37
NC_000005.8:g.150871737A>G NCBI36
NG_046979.1:g.145158T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001447.3:c.11905+182T>C (FAT2) MANE Select NP_001438.1:n.11905+182T>C
ENST00000261800.6:c.11905+182T>C (FAT2) MANE Select ENSP00000261800.5:n.11905+182T>C
NM_001447.2:c.11905+182T>C (FAT2) NP_001438.1:n.11905+182T>C
ENST00000261800.5:c.11905+182T>C (FAT2) ENSP00000261800.5:n.11905+182T>C
ENST00000520200.5:c.2222+182T>C (FAT2)
XM_006714761.2:c.11905+182T>C (FAT2) XP_006714824.1:n.11905+182T>C
XM_006714761.3:c.11905+182T>C (FAT2) XP_006714824.1:n.11905+182T>C
XM_011537595.1:c.1253-27270A>G (SLC36A1) XP_011535897.1:n.1253-27270A>G
XM_011537595.2:c.1178-27270A>G (SLC36A1) XP_011535897.2:n.1178-27270A>G
XM_011537598.1:c.11905+182T>C (FAT2) XP_011535900.1:n.11905+182T>C
XM_011537599.1:c.11905+182T>C (FAT2) XP_011535901.1:n.11905+182T>C
XM_011537600.1:c.11905+182T>C (FAT2) XP_011535902.1:n.11905+182T>C
XM_011537600.2:c.11905+182T>C (FAT2) XP_011535902.1:n.11905+182T>C
XM_011537601.1:c.11905+182T>C (FAT2) XP_011535903.1:n.11905+182T>C
XM_011537602.1:c.11905+182T>C (FAT2) XP_011535904.1:n.11905+182T>C
XM_011537603.1:c.11905+182T>C (FAT2) XP_011535905.1:n.11905+182T>C
XM_011537603.2:c.11905+182T>C (FAT2) XP_011535905.1:n.11905+182T>C
XM_011537604.1:c.11464-1809T>C (FAT2) XP_011535906.1:n.11464-1809T>C
XM_017009217.1:c.1160-27270A>G (SLC36A1) XP_016864706.1:n.1160-27270A>G
XM_017009219.2:c.926-27270A>G (SLC36A1) XP_016864708.1:n.926-27270A>G
XM_017009224.1:c.11905+182T>C (FAT2) XP_016864713.1:n.11905+182T>C
XM_017009225.1:c.11905+182T>C (FAT2) XP_016864714.1:n.11905+182T>C
XM_024446001.1:c.1160-27270A>G (SLC36A1) XP_024301769.1:n.1160-27270A>G
XR_001742039.1:n.12052-1809T>C (FAT2)
XR_944309.1:n.1552-27270A>G (SLC36A1)