Canonical Allele Identifier: CA2232982249
Gene: FA2H HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774299A= , CM000678.2:g.74774299A= GRCh38
NC_000016.9:g.74808197A= , CM000678.1:g.74808197A= GRCh37
NC_000016.8:g.73365698A= NCBI36
NG_017070.1:g.5533T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.270+187T= MANE Select ENSP00000219368.3:n.270+187T=
ENST00000219368.7:c.270+187T= ENSP00000219368.3:n.270+187T=
ENST00000567683.5:c.270+187T= ENSP00000455126.1:n.270+187T=
NM_024306.4:c.270+187T= NP_077282.3:n.270+187T=
XM_011523317.1:c.270+187T= XP_011521619.1:n.270+187T=
XM_011523318.1:c.270+187T= XP_011521620.1:n.270+187T=
XM_011523317.3:c.270+187T= XP_011521619.1:n.270+187T=
NM_024306.5:c.270+187T= MANE Select NP_077282.3:n.270+187T=