Canonical Allele Identifier: CA259931

Gene: FA2H

Linked Data

• ClinVar Variation Id: 30873
• ClinVar RCV Id: RCV000023858 ; RCV002513208
• dbSNP Id: rs587776891
• MyVariant Identifiers: chr16:g.74760225_74760226del (hg19) ; chr16:g.74726327_74726328del (hg38)
• PubMed: PMID:20853438 ; PMID:23745665

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74726328_74726329del , CM000678.2:g.74726328_74726329del	GRCh38
NC_000016.9:g.74760226_74760227del , CM000678.1:g.74760226_74760227del	GRCh37
NC_000016.8:g.73317727_73317728del	NCBI36
NG_017070.1:g.53504_53505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.510_511del MANE Select	ENSP00000219368.3:p.Tyr170Ter
ENST00000219368.7:c.510_511del	ENSP00000219368.3:p.Tyr170Ter
ENST00000567683.5:c.364-7168_364-7167del	ENSP00000455126.1:n.364-7168_364-7167del
ENST00000569949.1:c.312_313del	ENSP00000464576.1:p.Tyr104Ter
NM_024306.4:c.510_511del	NP_077282.3:p.Tyr170Ter
XM_011523317.1:c.510_511del	XP_011521619.1:p.Tyr170Ter
XM_011523318.1:c.510_511del	XP_011521620.1:p.Tyr170Ter
XM_011523319.1:c.270_271del	XP_011521621.1:p.Tyr90Ter
XM_011523317.3:c.510_511del	XP_011521619.1:p.Tyr170Ter
XM_011523319.2:c.270_271del	XP_011521621.1:p.Tyr90Ter
NM_024306.5:c.510_511del MANE Select	NP_077282.3:p.Tyr170Ter