Canonical Allele Identifier: CA3522146
Community Standard Title: NM_001447.3(FAT2):c.2057T>C (p.Phe686Ser)
Gene: FAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151566875A>G , CM000667.2:g.151566875A>G GRCh38
NC_000005.9:g.150946436A>G , CM000667.1:g.150946436A>G GRCh37
NC_000005.8:g.150926629A>G NCBI36
NG_046979.1:g.90266T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001447.3:c.2057T>C MANE Select NP_001438.1:p.Phe686Ser
ENST00000261800.6:c.2057T>C MANE Select ENSP00000261800.5:p.Phe686Ser
NM_001447.2:c.2057T>C NP_001438.1:p.Phe686Ser
ENST00000261800.5:c.2057T>C ENSP00000261800.5:p.Phe686Ser
XM_006714761.2:c.2057T>C XP_006714824.1:p.Phe686Ser
XM_006714761.3:c.2057T>C XP_006714824.1:p.Phe686Ser
XM_011537598.1:c.2057T>C XP_011535900.1:p.Phe686Ser
XM_011537599.1:c.2057T>C XP_011535901.1:p.Phe686Ser
XM_011537600.1:c.2057T>C XP_011535902.1:p.Phe686Ser
XM_011537600.2:c.2057T>C XP_011535902.1:p.Phe686Ser
XM_011537601.1:c.2057T>C XP_011535903.1:p.Phe686Ser
XM_011537602.1:c.2057T>C XP_011535904.1:p.Phe686Ser
XM_011537603.1:c.2057T>C XP_011535905.1:p.Phe686Ser
XM_011537603.2:c.2057T>C XP_011535905.1:p.Phe686Ser
XM_011537604.1:c.2057T>C XP_011535906.1:p.Phe686Ser
XM_011537605.1:c.2057T>C XP_011535907.1:p.Phe686Ser
XM_011537606.1:c.2057T>C XP_011535908.1:p.Phe686Ser
XM_017009224.1:c.2057T>C XP_016864713.1:p.Phe686Ser
XM_017009225.1:c.2057T>C XP_016864714.1:p.Phe686Ser
XM_017009227.1:c.2057T>C XP_016864716.1:p.Phe686Ser
XR_001742039.1:n.2645T>C
XR_002956152.1:n.2645T>C
XR_944310.1:n.2620T>C