Canonical Allele Identifier: CA8170441
Gene: FA2H HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.74719125C>T
GRCh37 chr16:g.74753023C>T
Revel Score:
ENST00000219368 (MANE Select) 0.530
ENST00000544337 0.530
gnomAD v2:
16:74753023 C / T
gnomAD v3:
16:74719125 C / T
gnomAD v4:
chr16-74719125-C-T
Joint Max Group AF 0.00001962 (NFE)
Genomes Max Group AF 0.00000797 (AFR)
Exomes Max Group AF 0.00001998 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74719125C>T , CM000678.2:g.74719125C>T GRCh38
NC_000016.9:g.74753023C>T , CM000678.1:g.74753023C>T GRCh37
NC_000016.8:g.73310524C>T NCBI36
NG_017070.1:g.60707G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.649G>A MANE Select ENSP00000219368.3:p.Gly217Arg
ENST00000219368.7:c.649G>A ENSP00000219368.3:p.Gly217Arg
ENST00000567683.5:c.399G>A ENSP00000455126.1:p.Pro133=
ENST00000569949.1:c.451G>A ENSP00000464576.1:p.Gly151Arg
NM_024306.4:c.649G>A NP_077282.3:p.Gly217Arg
XM_011523317.1:c.649G>A XP_011521619.1:p.Gly217Arg
XM_011523318.1:c.649G>A XP_011521620.1:p.Gly217Arg
XM_011523319.1:c.409G>A XP_011521621.1:p.Gly137Arg
XM_011523317.3:c.649G>A XP_011521619.1:p.Gly217Arg
XM_011523319.2:c.409G>A XP_011521621.1:p.Gly137Arg
NM_024306.5:c.649G>A MANE Select NP_077282.3:p.Gly217Arg
Search 100 bp 5'
Search 100 bp 3'