Canonical Allele Identifier: CA11013605

Gene: ACYP2

Linked Data

• ClinVar Variation Id: 375478
• ClinVar RCV Id: RCV000498162
• dbSNP Id: rs11125529
• gnomAD v2: 2-54475866-C-A
• gnomAD v3: 2-54248729-C-A
• gnomAD v4: 2-54248729-C-A
• MyVariant Identifiers: chr2:g.54475866C>A (hg19) ; chr2:g.54248729C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54248729C>A , CM000664.2:g.54248729C>A	GRCh38
NC_000002.11:g.54475866C>A , CM000664.1:g.54475866C>A	GRCh37
NC_000002.10:g.54329370C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000394666.9:c.186-55959C>A MANE Select	ENSP00000378161.3:n.186-55959C>A
ENST00000394666.8:c.186-55959C>A	ENSP00000378161.3:n.186-55959C>A
ENST00000607452.6:c.405-55959C>A	ENSP00000475986.1:n.405-55959C>A
ENST00000303536.8:c.270-18567C>A	ENSP00000306448.4:n.270-18567C>A
ENST00000394666.7:c.186-55959C>A	ENSP00000378161.3:n.186-55959C>A
ENST00000494922.6:c.265+25646C>A
ENST00000606865.1:c.138-55959C>A	ENSP00000475333.1:n.138-55959C>A
ENST00000607452.5:c.405-55959C>A	ENSP00000475986.1:n.405-55959C>A
NM_138448.3:c.186-55959C>A	NP_612457.1:n.186-55959C>A
NM_001320586.1:c.405-55959C>A	NP_001307515.1:n.405-55959C>A
NM_001320587.1:c.312-55959C>A	NP_001307516.1:n.312-55959C>A
NM_001320588.1:c.114-55959C>A	NP_001307517.1:n.114-55959C>A
NM_001320589.1:c.186-18567C>A	NP_001307518.1:n.186-18567C>A
XM_017005411.1:c.486-55959C>A	XP_016860900.1:n.486-55959C>A
XM_017005412.1:c.486-18567C>A	XP_016860901.1:n.486-18567C>A
XM_017005413.1:c.*23-55959C>A	XP_016860902.1:n.*23-55959C>A
XR_001739083.1:n.1092+25646C>A
NM_001320586.2:c.405-55959C>A	NP_001307515.1:n.405-55959C>A
NM_001320587.2:c.312-55959C>A	NP_001307516.1:n.312-55959C>A
NM_001320588.2:c.114-55959C>A	NP_001307517.1:n.114-55959C>A
NM_001320589.2:c.186-18567C>A	NP_001307518.1:n.186-18567C>A
NM_138448.4:c.186-55959C>A MANE Select	NP_612457.1:n.186-55959C>A