Canonical Allele Identifier: CA052490

Gene: FA2H

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774597_74774606dup , CM000678.2:g.74774597_74774606dup	GRCh38
NC_000016.9:g.74808495_74808504dup , CM000678.1:g.74808495_74808504dup	GRCh37
NC_000016.8:g.73365996_73366005dup	NCBI36
NG_017070.1:g.5236_5245dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.160_169dup MANE Select	ENSP00000219368.3:p.Asp57GlyfsTer?
ENST00000219368.7:c.160_169dup	ENSP00000219368.3:p.Asp57GlyfsTer?
ENST00000567683.5:c.160_169dup	ENSP00000455126.1:p.Asp57GlyfsTer?
NM_024306.4:c.160_169dup	NP_077282.3:p.Asp57GlyfsTer?
XM_011523317.1:c.160_169dup	XP_011521619.1:p.Asp57GlyfsTer?
XM_011523318.1:c.160_169dup	XP_011521620.1:p.Asp57GlyfsTer?
XM_011523317.3:c.160_169dup	XP_011521619.1:p.Asp57GlyfsTer?
NM_024306.5:c.160_169dup MANE Select	NP_077282.3:p.Asp57GlyfsTer?