Canonical Allele Identifier: CA396768117

Gene: FA2H

Linked Data

• ClinVar Variation Id: 1435993
• ClinVar RCV Id: RCV001974657
• dbSNP Id: rs2144672293
• MyVariant Identifiers: chr16:g.74808414G>C (hg19) ; chr16:g.74774516G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774516G>C , CM000678.2:g.74774516G>C	GRCh38
NC_000016.9:g.74808414G>C , CM000678.1:g.74808414G>C	GRCh37
NC_000016.8:g.73365915G>C	NCBI36
NG_017070.1:g.5316C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.240C>G MANE Select	ENSP00000219368.3:p.Tyr80Ter
ENST00000219368.7:c.240C>G	ENSP00000219368.3:p.Tyr80Ter
ENST00000567683.5:c.240C>G	ENSP00000455126.1:p.Tyr80Ter
NM_024306.4:c.240C>G	NP_077282.3:p.Tyr80Ter
XM_011523317.1:c.240C>G	XP_011521619.1:p.Tyr80Ter
XM_011523318.1:c.240C>G	XP_011521620.1:p.Tyr80Ter
XM_011523317.3:c.240C>G	XP_011521619.1:p.Tyr80Ter
NM_024306.5:c.240C>G MANE Select	NP_077282.3:p.Tyr80Ter