Canonical Allele Identifier: CA283770059
Gene: FA2H HGNC NCBI

Linked Data

ClinVar Variation Id: 1591007
ClinVar RCV Id: RCV002107546
dbSNP Id: rs1012042641
gnomAD v2: 16-74808558-G-A
gnomAD v3: 16-74774660-G-A
gnomAD v4: 16-74774660-G-A
MyVariant Identifiers: chr16:g.74808558G>A (hg19) chr16:g.74774660G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774660G>A , CM000678.2:g.74774660G>A GRCh38
NC_000016.9:g.74808558G>A , CM000678.1:g.74808558G>A GRCh37
NC_000016.8:g.73366059G>A NCBI36
NG_017070.1:g.5172C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.96C>T MANE Select ENSP00000219368.3:p.Arg32=
ENST00000219368.7:c.96C>T ENSP00000219368.3:p.Arg32=
ENST00000567683.5:c.96C>T ENSP00000455126.1:p.Arg32=
NM_024306.4:c.96C>T NP_077282.3:p.Arg32=
XM_011523317.1:c.96C>T XP_011521619.1:p.Arg32=
XM_011523318.1:c.96C>T XP_011521620.1:p.Arg32=
XM_011523317.3:c.96C>T XP_011521619.1:p.Arg32=
NM_024306.5:c.96C>T MANE Select NP_077282.3:p.Arg32=
Search 100 bp 5'
Search 100 bp 3'