Canonical Allele Identifier: CA396768417

Gene: FA2H

Linked Data

• dbSNP Id: rs1962976116
• gnomAD v3: 16-74774655-T-C
• gnomAD v4: 16-74774655-T-C
• MyVariant Identifiers: chr16:g.74808553T>C (hg19) ; chr16:g.74774655T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774655T>C , CM000678.2:g.74774655T>C	GRCh38
NC_000016.9:g.74808553T>C , CM000678.1:g.74808553T>C	GRCh37
NC_000016.8:g.73366054T>C	NCBI36
NG_017070.1:g.5177A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.101A>G MANE Select	ENSP00000219368.3:p.Tyr34Cys
ENST00000219368.7:c.101A>G	ENSP00000219368.3:p.Tyr34Cys
ENST00000567683.5:c.101A>G	ENSP00000455126.1:p.Tyr34Cys
NM_024306.4:c.101A>G	NP_077282.3:p.Tyr34Cys
XM_011523317.1:c.101A>G	XP_011521619.1:p.Tyr34Cys
XM_011523318.1:c.101A>G	XP_011521620.1:p.Tyr34Cys
XM_011523317.3:c.101A>G	XP_011521619.1:p.Tyr34Cys
NM_024306.5:c.101A>G MANE Select	NP_077282.3:p.Tyr34Cys