Canonical Allele Identifier: CA47470626

Gene: ACYP2

Linked Data

• dbSNP Id: rs10439478
• gnomAD v2: 2-54459450-A-T
• gnomAD v3: 2-54232313-A-T
• gnomAD v4: 2-54232313-A-T
• MyVariant Identifiers: chr2:g.54459450A>T (hg19) ; chr2:g.54232313A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54232313A>T , CM000664.2:g.54232313A>T	GRCh38
NC_000002.11:g.54459450A>T , CM000664.1:g.54459450A>T	GRCh37
NC_000002.10:g.54312954A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000394666.9:c.186-72375A>T MANE Select	ENSP00000378161.3:n.186-72375A>T
ENST00000394666.8:c.186-72375A>T	ENSP00000378161.3:n.186-72375A>T
ENST00000607452.6:c.405-72375A>T	ENSP00000475986.1:n.405-72375A>T
ENST00000303536.8:c.270-34983A>T	ENSP00000306448.4:n.270-34983A>T
ENST00000394666.7:c.186-72375A>T	ENSP00000378161.3:n.186-72375A>T
ENST00000494922.6:c.265+9230A>T
ENST00000606865.1:c.138-72375A>T	ENSP00000475333.1:n.138-72375A>T
ENST00000607452.5:c.405-72375A>T	ENSP00000475986.1:n.405-72375A>T
NM_138448.3:c.186-72375A>T	NP_612457.1:n.186-72375A>T
NM_001320586.1:c.405-72375A>T	NP_001307515.1:n.405-72375A>T
NM_001320587.1:c.312-72375A>T	NP_001307516.1:n.312-72375A>T
NM_001320588.1:c.114-72375A>T	NP_001307517.1:n.114-72375A>T
NM_001320589.1:c.186-34983A>T	NP_001307518.1:n.186-34983A>T
XM_017005411.1:c.486-72375A>T	XP_016860900.1:n.486-72375A>T
XM_017005412.1:c.486-34983A>T	XP_016860901.1:n.486-34983A>T
XM_017005413.1:c.*23-72375A>T	XP_016860902.1:n.*23-72375A>T
XR_001739083.1:n.1092+9230A>T
NM_001320586.2:c.405-72375A>T	NP_001307515.1:n.405-72375A>T
NM_001320587.2:c.312-72375A>T	NP_001307516.1:n.312-72375A>T
NM_001320588.2:c.114-72375A>T	NP_001307517.1:n.114-72375A>T
NM_001320589.2:c.186-34983A>T	NP_001307518.1:n.186-34983A>T
NM_138448.4:c.186-72375A>T MANE Select	NP_612457.1:n.186-72375A>T