Canonical Allele Identifier: CA496547771

Gene: FA2H

Linked Data

• MyVariant Identifiers: chr16:g.74760220G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74726322G>A , CM000678.2:g.74726322G>A	GRCh38
NC_000016.9:g.74760220G>A , CM000678.1:g.74760220G>A	GRCh37
NC_000016.8:g.73317721G>A	NCBI36
NG_017070.1:g.53510C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000219368.8:c.516C>T MANE Select	ENSP00000219368.3:p.Val172=
ENST00000219368.7:c.516C>T	ENSP00000219368.3:p.Val172=
ENST00000567683.5:c.364-7162C>T	ENSP00000455126.1:n.364-7162C>T
ENST00000569949.1:c.318C>T	ENSP00000464576.1:p.Val106=
NM_024306.4:c.516C>T	NP_077282.3:p.Val172=
XM_011523317.1:c.516C>T	XP_011521619.1:p.Val172=
XM_011523318.1:c.516C>T	XP_011521620.1:p.Val172=
XM_011523319.1:c.276C>T	XP_011521621.1:p.Val92=
XM_011523317.3:c.516C>T	XP_011521619.1:p.Val172=
XM_011523319.2:c.276C>T	XP_011521621.1:p.Val92=
NM_024306.5:c.516C>T MANE Select	NP_077282.3:p.Val172=