Canonical Allele Identifier: CA2232982611

Gene: FA2H

Linked Data

• dbSNP Id: rs1962975306

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774631_74774632del , CM000678.2:g.74774631_74774632del	GRCh38
NC_000016.9:g.74808529_74808530del , CM000678.1:g.74808529_74808530del	GRCh37
NC_000016.8:g.73366030_73366031del	NCBI36
NG_017070.1:g.5201_5202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.125_126del MANE Select	ENSP00000219368.3:p.His42ProfsTer?
ENST00000219368.7:c.125_126del	ENSP00000219368.3:p.His42ProfsTer?
ENST00000567683.5:c.125_126del	ENSP00000455126.1:p.His42ProfsTer?
NM_024306.4:c.125_126del	NP_077282.3:p.His42ProfsTer?
XM_011523317.1:c.125_126del	XP_011521619.1:p.His42ProfsTer?
XM_011523318.1:c.125_126del	XP_011521620.1:p.His42ProfsTer?
XM_011523317.3:c.125_126del	XP_011521619.1:p.His42ProfsTer?
NM_024306.5:c.125_126del MANE Select	NP_077282.3:p.His42ProfsTer?