Canonical Allele Identifier: CA2472185

Gene: ACOX2

Linked Data

• ClinVar Variation Id: 2194390
• ClinVar RCV Id: RCV002637120 ; RCV004070692
• dbSNP Id: rs145470450
• ExAC: 3:58514586 G / C
• gnomAD v2: 3-58514586-G-C
• gnomAD v3: 3-58528859-G-C
• gnomAD v4: 3-58528859-G-C
• MyVariant Identifiers: chr3:g.58514586G>C (hg19) ; chr3:g.58528859G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58528859G>C , CM000665.2:g.58528859G>C	GRCh38
NC_000003.11:g.58514586G>C , CM000665.1:g.58514586G>C	GRCh37
NC_000003.10:g.58489626G>C	NCBI36
NG_052668.1:g.13344C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302819.10:c.1090C>G MANE Select	ENSP00000307697.5:p.Leu364Val
ENST00000302819.9:c.1090C>G	ENSP00000307697.5:p.Leu364Val
ENST00000459701.6:c.1048C>G	ENSP00000418562.2:p.Leu350Val
ENST00000459888.1:n.348C>G
ENST00000489472.1:c.469C>G	ENSP00000418515.1:n.469C>G
NM_003500.3:c.1090C>G	NP_003491.1:p.Leu364Val
XM_005265505.1:c.1090C>G	XP_005265562.1:p.Leu364Val
XM_005265506.2:c.880C>G	XP_005265563.1:p.Leu294Val
XM_006713340.2:c.796C>G	XP_006713403.1:p.Leu266Val
XM_011534147.1:c.1255C>G	XP_011532449.1:p.Leu419Val
XM_011534148.1:c.796C>G	XP_011532450.1:p.Leu266Val
XM_006713340.3:c.796C>G	XP_006713403.1:p.Leu266Val
XM_017007302.2:c.880C>G	XP_016862791.1:p.Leu294Val
XM_024453786.1:c.880C>G	XP_024309554.1:p.Leu294Val
NM_003500.4:c.1090C>G MANE Select	NP_003491.1:p.Leu364Val