Canonical Allele Identifier: CA283756784
Gene: FA2H HGNC NCBI

Linked Data

ClinVar Variation Id: 886553
ClinVar RCV Id: RCV001118793
dbSNP Id: rs529743145

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713305C>A , CM000678.2:g.74713305C>A GRCh38
NC_000016.9:g.74747203C>A , CM000678.1:g.74747203C>A GRCh37
NC_000016.8:g.73304704C>A NCBI36
NG_017070.1:g.66527G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*885G>T MANE Select ENSP00000219368.3:n.*885G>T
ENST00000219368.7:c.*885G>T ENSP00000219368.3:n.*885G>T
ENST00000562145.1:n.1725G>T
NM_024306.4:c.*885G>T NP_077282.3:n.*885G>T
XM_011523319.1:c.*885G>T XP_011521621.1:n.*885G>T
XM_011523319.2:c.*885G>T XP_011521621.1:n.*885G>T
NM_024306.5:c.*885G>T MANE Select NP_077282.3:n.*885G>T