Canonical Allele Identifier: CA396769958

Gene: FA2H

Linked Data

• dbSNP Id: rs1482825977
• gnomAD v2: 16-74760226-G-C
• gnomAD v4: 16-74726328-G-C
• MyVariant Identifiers: chr16:g.74760226G>C (hg19) ; chr16:g.74726328G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74726328G>C , CM000678.2:g.74726328G>C	GRCh38
NC_000016.9:g.74760226G>C , CM000678.1:g.74760226G>C	GRCh37
NC_000016.8:g.73317727G>C	NCBI36
NG_017070.1:g.53504C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.510C>G MANE Select	ENSP00000219368.3:p.Tyr170Ter
ENST00000219368.7:c.510C>G	ENSP00000219368.3:p.Tyr170Ter
ENST00000567683.5:c.364-7168C>G	ENSP00000455126.1:n.364-7168C>G
ENST00000569949.1:c.312C>G	ENSP00000464576.1:p.Tyr104Ter
NM_024306.4:c.510C>G	NP_077282.3:p.Tyr170Ter
XM_011523317.1:c.510C>G	XP_011521619.1:p.Tyr170Ter
XM_011523318.1:c.510C>G	XP_011521620.1:p.Tyr170Ter
XM_011523319.1:c.270C>G	XP_011521621.1:p.Tyr90Ter
XM_011523317.3:c.510C>G	XP_011521619.1:p.Tyr170Ter
XM_011523319.2:c.270C>G	XP_011521621.1:p.Tyr90Ter
NM_024306.5:c.510C>G MANE Select	NP_077282.3:p.Tyr170Ter