Canonical Allele Identifier: CA11013563
Gene: ACYP2 HGNC NCBI

Linked Data

dbSNP Id: rs1559040
gnomAD v2: 2-54347750-C-T
gnomAD v3: 2-54120613-C-T
gnomAD v4: 2-54120613-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.54120613C>T , CM000664.2:g.54120613C>T GRCh38
NC_000002.11:g.54347750C>T , CM000664.1:g.54347750C>T GRCh37
NC_000002.10:g.54201254C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000394666.9:c.58+4857C>T MANE Select ENSP00000378161.3:n.58+4857C>T
ENST00000394666.8:c.58+4857C>T ENSP00000378161.3:n.58+4857C>T
ENST00000607452.6:c.278-14840C>T ENSP00000475986.1:n.278-14840C>T
ENST00000303536.8:c.142+4857C>T ENSP00000306448.4:n.142+4857C>T
ENST00000394666.7:c.58+4857C>T ENSP00000378161.3:n.58+4857C>T
ENST00000406041.5:c.142+4857C>T ENSP00000385674.1:n.142+4857C>T
ENST00000494922.6:c.51+4857C>T
ENST00000607452.5:c.278-14840C>T ENSP00000475986.1:n.278-14840C>T
NM_138448.3:c.58+4857C>T NP_612457.1:n.58+4857C>T
NM_001320586.1:c.278-14840C>T NP_001307515.1:n.278-14840C>T
NM_001320587.1:c.185-14840C>T NP_001307516.1:n.185-14840C>T
NM_001320589.1:c.58+4857C>T NP_001307518.1:n.58+4857C>T
NM_001320590.1:c.58+4857C>T NP_001307519.1:n.58+4857C>T
XM_017005406.1:c.359-14840C>T XP_016860895.1:n.359-14840C>T
XM_017005407.1:c.278-14840C>T XP_016860896.1:n.278-14840C>T
XM_017005408.1:c.272-14840C>T XP_016860897.1:n.272-14840C>T
XM_017005409.1:c.185-14840C>T XP_016860898.1:n.185-14840C>T
XM_017005410.1:c.142+4857C>T XP_016860899.1:n.142+4857C>T
XM_017005411.1:c.359-14840C>T XP_016860900.1:n.359-14840C>T
XM_017005412.1:c.359-14840C>T XP_016860901.1:n.359-14840C>T
XM_017005413.1:c.359-14840C>T XP_016860902.1:n.359-14840C>T
XR_001739083.1:n.879-14840C>T
NM_001320586.2:c.278-14840C>T NP_001307515.1:n.278-14840C>T
NM_001320587.2:c.185-14840C>T NP_001307516.1:n.185-14840C>T
NM_001320589.2:c.58+4857C>T NP_001307518.1:n.58+4857C>T
NM_001320590.2:c.58+4857C>T NP_001307519.1:n.58+4857C>T
NM_138448.4:c.58+4857C>T MANE Select NP_612457.1:n.58+4857C>T