Canonical Allele Identifier: CA3519819

Gene: FAT2 SLC36A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151507453C>G , CM000667.2:g.151507453C>G	GRCh38
NC_000005.9:g.150887014C>G , CM000667.1:g.150887014C>G	GRCh37
NC_000005.8:g.150867207C>G	NCBI36
NG_046979.1:g.149688G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001447.3:c.12218G>C (FAT2) MANE Select	NP_001438.1:p.Cys4073Ser
ENST00000261800.6:c.12218G>C (FAT2) MANE Select	ENSP00000261800.5:p.Cys4073Ser
NM_001447.2:c.12218G>C (FAT2)	NP_001438.1:p.Cys4073Ser
ENST00000261800.5:c.12218G>C (FAT2)	ENSP00000261800.5:p.Cys4073Ser
ENST00000520200.5:c.2535G>C (FAT2)
XM_006714761.2:c.12218G>C (FAT2)	XP_006714824.1:p.Cys4073Ser
XM_006714761.3:c.12218G>C (FAT2)	XP_006714824.1:p.Cys4073Ser
XM_011537595.1:c.1252+27964C>G (SLC36A1)	XP_011535897.1:n.1252+27964C>G
XM_011537595.2:c.1177+27964C>G (SLC36A1)	XP_011535897.2:n.1177+27964C>G
XM_011537598.1:c.12218G>C (FAT2)	XP_011535900.1:p.Cys4073Ser
XM_011537599.1:c.12218G>C (FAT2)	XP_011535901.1:p.Cys4073Ser
XM_011537600.1:c.12218G>C (FAT2)	XP_011535902.1:p.Cys4073Ser
XM_011537600.2:c.12218G>C (FAT2)	XP_011535902.1:p.Cys4073Ser
XM_011537601.1:c.12218G>C (FAT2)	XP_011535903.1:p.Cys4073Ser
XM_011537602.1:c.12218G>C (FAT2)	XP_011535904.1:p.Cys4073Ser
XM_011537603.1:c.12218G>C (FAT2)	XP_011535905.1:p.Cys4073Ser
XM_011537603.2:c.12218G>C (FAT2)	XP_011535905.1:p.Cys4073Ser
XM_011537604.1:c.*115G>C (FAT2)	XP_011535906.1:n.*115G>C
XM_017009217.1:c.1159+27964C>G (SLC36A1)	XP_016864706.1:n.1159+27964C>G
XM_017009219.2:c.925+27964C>G (SLC36A1)	XP_016864708.1:n.925+27964C>G
XM_017009224.1:c.12218G>C (FAT2)	XP_016864713.1:p.Cys4073Ser
XM_017009225.1:c.12218G>C (FAT2)	XP_016864714.1:p.Cys4073Ser
XM_024446001.1:c.1159+27964C>G (SLC36A1)	XP_024301769.1:n.1159+27964C>G
XR_001742039.1:n.12364G>C (FAT2)
XR_944309.1:n.1551+27964C>G (SLC36A1)