Canonical Allele Identifier: CA8170441

Gene: FA2H

Linked Data

• ClinVar Variation Id: 241463
• ClinVar RCV Id: RCV000226521 ; RCV001391536 ; RCV001731541 ; RCV001848011 ; RCV003480565
• dbSNP Id: rs775750642
• ExAC: 16:74753023 C / T
• gnomAD v2: 16-74753023-C-T
• gnomAD v3: 16-74719125-C-T
• gnomAD v4: 16-74719125-C-T
• COSMIC: COSM1661729
• MyVariant Identifiers: chr16:g.74753023C>T (hg19) ; chr16:g.74719125C>T (hg38)

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