Canonical Allele Identifier: CA2472209

Gene: ACOX2

Linked Data

• ClinVar Variation Id: 2821579
• ClinVar RCV Id: RCV003723125
• dbSNP Id: rs753683458
• ExAC: 3:58516187 C / T
• gnomAD v2: 3-58516187-C-T
• gnomAD v4: 3-58530460-C-T
• MyVariant Identifiers: chr3:g.58516187C>T (hg19) ; chr3:g.58530460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58530460C>T , CM000665.2:g.58530460C>T	GRCh38
NC_000003.11:g.58516187C>T , CM000665.1:g.58516187C>T	GRCh37
NC_000003.10:g.58491227C>T	NCBI36
NG_052668.1:g.11743G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302819.10:c.992+6G>A MANE Select	ENSP00000307697.5:n.992+6G>A
ENST00000302819.9:c.992+6G>A	ENSP00000307697.5:n.992+6G>A
ENST00000459701.6:c.950+6G>A	ENSP00000418562.2:n.950+6G>A
ENST00000489472.1:c.371+791G>A	ENSP00000418515.1:n.371+791G>A
NM_003500.3:c.992+6G>A	NP_003491.1:n.992+6G>A
XM_005265505.1:c.992+6G>A	XP_005265562.1:n.992+6G>A
XM_005265506.2:c.782+6G>A	XP_005265563.1:n.782+6G>A
XM_006713340.2:c.698+6G>A	XP_006713403.1:n.698+6G>A
XM_011534147.1:c.1157+6G>A	XP_011532449.1:n.1157+6G>A
XM_011534148.1:c.698+6G>A	XP_011532450.1:n.698+6G>A
XM_006713340.3:c.698+6G>A	XP_006713403.1:n.698+6G>A
XM_017007302.2:c.782+6G>A	XP_016862791.1:n.782+6G>A
XM_024453786.1:c.782+6G>A	XP_024309554.1:n.782+6G>A
NM_003500.4:c.992+6G>A MANE Select	NP_003491.1:n.992+6G>A