Canonical Allele Identifier: CA396768249

Gene: FA2H

Linked Data

• dbSNP Id: rs1223285087
• gnomAD v2: 16-74808473-C-T
• gnomAD v4: 16-74774575-C-T
• MyVariant Identifiers: chr16:g.74808473C>T (hg19) ; chr16:g.74774575C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774575C>T , CM000678.2:g.74774575C>T	GRCh38
NC_000016.9:g.74808473C>T , CM000678.1:g.74808473C>T	GRCh37
NC_000016.8:g.73365974C>T	NCBI36
NG_017070.1:g.5257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.181G>A MANE Select	ENSP00000219368.3:p.Asp61Asn
ENST00000219368.7:c.181G>A	ENSP00000219368.3:p.Asp61Asn
ENST00000567683.5:c.181G>A	ENSP00000455126.1:p.Asp61Asn
NM_024306.4:c.181G>A	NP_077282.3:p.Asp61Asn
XM_011523317.1:c.181G>A	XP_011521619.1:p.Asp61Asn
XM_011523318.1:c.181G>A	XP_011521620.1:p.Asp61Asn
XM_011523317.3:c.181G>A	XP_011521619.1:p.Asp61Asn
NM_024306.5:c.181G>A MANE Select	NP_077282.3:p.Asp61Asn