Canonical Allele Identifier: CA259928

Gene: FA2H

Linked Data

• ClinVar Variation Id: 30871
• ClinVar RCV Id: RCV000023856 ; RCV002293414 ; RCV002513206
• dbSNP Id: rs759947457
• ExAC: 16:74808477 GCTGATGTCCTGGCCCGCC / G
• gnomAD v2: 16-74808477-GCTGATGTCCTGGCCCGCC-G
• gnomAD v4: 16-74774579-GCTGATGTCCTGGCCCGCC-G
• MyVariant Identifiers: chr16:g.74808478_74808495del (hg19) ; chr16:g.74774580_74774597del (hg38)
• PubMed: PMID:20104589

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774583_74774600del , CM000678.2:g.74774583_74774600del	GRCh38
NC_000016.9:g.74808481_74808498del , CM000678.1:g.74808481_74808498del	GRCh37
NC_000016.8:g.73365982_73365999del	NCBI36
NG_017070.1:g.5235_5252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.159_176del MANE Select	ENSP00000219368.3:p.Arg53_Ile58del
ENST00000219368.7:c.159_176del	ENSP00000219368.3:p.Arg53_Ile58del
ENST00000567683.5:c.159_176del	ENSP00000455126.1:p.Arg53_Ile58del
NM_024306.4:c.159_176del	NP_077282.3:p.Arg53_Ile58del
XM_011523317.1:c.159_176del	XP_011521619.1:p.Arg53_Ile58del
XM_011523318.1:c.159_176del	XP_011521620.1:p.Arg53_Ile58del
XM_011523317.3:c.159_176del	XP_011521619.1:p.Arg53_Ile58del
NM_024306.5:c.159_176del MANE Select	NP_077282.3:p.Arg53_Ile58del