Canonical Allele Identifier: CA47481289
Gene: ACYP2 HGNC NCBI
gnomAD v4:

Genomic Alleles

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

Transcript Alleles

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