Canonical Allele Identifier: CA723874663

Gene: FA2H

Linked Data

• dbSNP Id: rs1474328469
• gnomAD v4: 16-74774347-GAA-G
• MyVariant Identifiers: chr16:g.74808246_74808247del (hg19) ; chr16:g.74774348_74774349del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774348_74774349del , CM000678.2:g.74774348_74774349del	GRCh38
NC_000016.9:g.74808246_74808247del , CM000678.1:g.74808246_74808247del	GRCh37
NC_000016.8:g.73365747_73365748del	NCBI36
NG_017070.1:g.5483_5484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.270+137_270+138del MANE Select	ENSP00000219368.3:n.270+137_270+138del
ENST00000219368.7:c.270+137_270+138del	ENSP00000219368.3:n.270+137_270+138del
ENST00000567683.5:c.270+137_270+138del	ENSP00000455126.1:n.270+137_270+138del
NM_024306.4:c.270+137_270+138del	NP_077282.3:n.270+137_270+138del
XM_011523317.1:c.270+137_270+138del	XP_011521619.1:n.270+137_270+138del
XM_011523318.1:c.270+137_270+138del	XP_011521620.1:n.270+137_270+138del
XM_011523317.3:c.270+137_270+138del	XP_011521619.1:n.270+137_270+138del
NM_024306.5:c.270+137_270+138del MANE Select	NP_077282.3:n.270+137_270+138del