Canonical Allele Identifier: CA396768762
Gene: FA2H HGNC NCBI

Linked Data

ClinVar Variation Id: 528011
ClinVar RCV Id: RCV000633060
dbSNP Id: rs375479162
gnomAD v2: 16-74748152-G-A
gnomAD v3: 16-74714254-G-A
gnomAD v4: 16-74714254-G-A
MyVariant Identifiers: chr16:g.74748152G>A (hg19) chr16:g.74714254G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74714254G>A , CM000678.2:g.74714254G>A GRCh38
NC_000016.9:g.74748152G>A , CM000678.1:g.74748152G>A GRCh37
NC_000016.8:g.73305653G>A NCBI36
NG_017070.1:g.65578C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.1055C>T MANE Select ENSP00000219368.3:p.Thr352Ile
ENST00000219368.7:c.1055C>T ENSP00000219368.3:p.Thr352Ile
ENST00000562145.1:n.776C>T
ENST00000567683.5:c.*334C>T ENSP00000455126.1:n.*334C>T
NM_024306.4:c.1055C>T NP_077282.3:p.Thr352Ile
XM_011523319.1:c.815C>T XP_011521621.1:p.Thr272Ile
XM_011523319.2:c.815C>T XP_011521621.1:p.Thr272Ile
NM_024306.5:c.1055C>T MANE Select NP_077282.3:p.Thr352Ile
Search 100 bp 5'
Search 100 bp 3'