Canonical Allele Identifier: CA396768611
Gene: FA2H HGNC NCBI

Linked Data

ClinVar Variation Id: 458306
ClinVar RCV Id: RCV000539908
dbSNP Id: rs1555542889
gnomAD v4: 16-74774754-A-G
MyVariant Identifiers: chr16:g.74808652A>G (hg19) chr16:g.74774754A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774754A>G , CM000678.2:g.74774754A>G GRCh38
NC_000016.9:g.74808652A>G , CM000678.1:g.74808652A>G GRCh37
NC_000016.8:g.73366153A>G NCBI36
NG_017070.1:g.5078T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.2T>C MANE Select ENSP00000219368.3:p.Met1Thr
ENST00000219368.7:c.2T>C ENSP00000219368.3:p.Met1Thr
ENST00000567683.5:c.2T>C ENSP00000455126.1:p.Met1Thr
NM_024306.4:c.2T>C NP_077282.3:p.Met1Thr
XM_011523317.1:c.2T>C XP_011521619.1:p.Met1Thr
XM_011523318.1:c.2T>C XP_011521620.1:p.Met1Thr
XM_011523317.3:c.2T>C XP_011521619.1:p.Met1Thr
NM_024306.5:c.2T>C MANE Select NP_077282.3:p.Met1Thr
Search 100 bp 5'
Search 100 bp 3'