Canonical Allele Identifier: CA396768257

Gene: FA2H

Linked Data

• ClinVar Variation Id: 1400082
• ClinVar RCV Id: RCV001918005
• dbSNP Id: rs2144672449
• MyVariant Identifiers: chr16:g.74808478C>G (hg19) ; chr16:g.74774580C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774580C>G , CM000678.2:g.74774580C>G	GRCh38
NC_000016.9:g.74808478C>G , CM000678.1:g.74808478C>G	GRCh37
NC_000016.8:g.73365979C>G	NCBI36
NG_017070.1:g.5252G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.176G>C MANE Select	ENSP00000219368.3:p.Ser59Thr
ENST00000219368.7:c.176G>C	ENSP00000219368.3:p.Ser59Thr
ENST00000567683.5:c.176G>C	ENSP00000455126.1:p.Ser59Thr
NM_024306.4:c.176G>C	NP_077282.3:p.Ser59Thr
XM_011523317.1:c.176G>C	XP_011521619.1:p.Ser59Thr
XM_011523318.1:c.176G>C	XP_011521620.1:p.Ser59Thr
XM_011523317.3:c.176G>C	XP_011521619.1:p.Ser59Thr
NM_024306.5:c.176G>C MANE Select	NP_077282.3:p.Ser59Thr