Canonical Allele Identifier: CA47485310
Gene: ACYP2 HGNC NCBI
TSPYL6 HGNC NCBI

Linked Data

dbSNP Id: rs907375606
gnomAD v2: 2-54481627-G-C
gnomAD v3: 2-54254490-G-C
gnomAD v4: 2-54254490-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.54254490G>C , CM000664.2:g.54254490G>C GRCh38
NC_000002.11:g.54481627G>C , CM000664.1:g.54481627G>C GRCh37
NC_000002.10:g.54335131G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000394666.9:c.186-50198G>C (ACYP2) MANE Select ENSP00000378161.3:n.186-50198G>C
ENST00000394666.8:c.186-50198G>C (ACYP2) ENSP00000378161.3:n.186-50198G>C
ENST00000317802.9:c.*429C>G (TSPYL6) MANE Select ENSP00000417919.2:n.*429C>G
ENST00000607452.6:c.405-50198G>C (ACYP2) ENSP00000475986.1:n.405-50198G>C
ENST00000303536.8:c.270-12806G>C (ACYP2) ENSP00000306448.4:n.270-12806G>C
ENST00000317802.8:c.*429C>G (TSPYL6) ENSP00000417919.2:n.*429C>G
ENST00000394666.7:c.186-50198G>C (ACYP2) ENSP00000378161.3:n.186-50198G>C
ENST00000494922.6:c.265+31407G>C (ACYP2)
ENST00000606865.1:c.138-50198G>C (ACYP2) ENSP00000475333.1:n.138-50198G>C
ENST00000607452.5:c.405-50198G>C (ACYP2) ENSP00000475986.1:n.405-50198G>C
NM_001003937.2:c.*429C>G (TSPYL6) NP_001003937.2:n.*429C>G
NM_138448.3:c.186-50198G>C (ACYP2) NP_612457.1:n.186-50198G>C
NM_001320586.1:c.405-50198G>C (ACYP2) NP_001307515.1:n.405-50198G>C
NM_001320587.1:c.312-50198G>C (ACYP2) NP_001307516.1:n.312-50198G>C
NM_001320588.1:c.114-50198G>C (ACYP2) NP_001307517.1:n.114-50198G>C
NM_001320589.1:c.186-12806G>C (ACYP2) NP_001307518.1:n.186-12806G>C
XM_017005411.1:c.486-50198G>C (ACYP2) XP_016860900.1:n.486-50198G>C
XM_017005412.1:c.486-12806G>C (ACYP2) XP_016860901.1:n.486-12806G>C
XM_017005413.1:c.*23-50198G>C (ACYP2) XP_016860902.1:n.*23-50198G>C
XR_001739083.1:n.1092+31407G>C (ACYP2)
NM_001003937.3:c.*429C>G (TSPYL6) MANE Select NP_001003937.2:n.*429C>G
NM_001320586.2:c.405-50198G>C (ACYP2) NP_001307515.1:n.405-50198G>C
NM_001320587.2:c.312-50198G>C (ACYP2) NP_001307516.1:n.312-50198G>C
NM_001320588.2:c.114-50198G>C (ACYP2) NP_001307517.1:n.114-50198G>C
NM_001320589.2:c.186-12806G>C (ACYP2) NP_001307518.1:n.186-12806G>C
NM_138448.4:c.186-50198G>C (ACYP2) MANE Select NP_612457.1:n.186-50198G>C