Linked Data
dbSNP Id:
rs768411979
gnomAD v2:
2-54481561-G-A
gnomAD v3:
2-54254424-G-A
gnomAD v4:
2-54254424-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.54254424G>A , CM000664.2:g.54254424G>A | GRCh38 |
| NC_000002.11:g.54481561G>A , CM000664.1:g.54481561G>A | GRCh37 |
| NC_000002.10:g.54335065G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394666.9:c.186-50264G>A (ACYP2) MANE Select | ENSP00000378161.3:n.186-50264G>A | |
| ENST00000394666.8:c.186-50264G>A (ACYP2) | ENSP00000378161.3:n.186-50264G>A | |
| ENST00000317802.9:c.*495C>T (TSPYL6) MANE Select | ENSP00000417919.2:n.*495C>T | |
| ENST00000607452.6:c.405-50264G>A (ACYP2) | ENSP00000475986.1:n.405-50264G>A | |
| ENST00000303536.8:c.270-12872G>A (ACYP2) | ENSP00000306448.4:n.270-12872G>A | |
| ENST00000317802.8:c.*495C>T (TSPYL6) | ENSP00000417919.2:n.*495C>T | |
| ENST00000394666.7:c.186-50264G>A (ACYP2) | ENSP00000378161.3:n.186-50264G>A | |
| ENST00000494922.6:c.265+31341G>A (ACYP2) | ||
| ENST00000606865.1:c.138-50264G>A (ACYP2) | ENSP00000475333.1:n.138-50264G>A | |
| ENST00000607452.5:c.405-50264G>A (ACYP2) | ENSP00000475986.1:n.405-50264G>A | |
| NM_001003937.2:c.*495C>T (TSPYL6) | NP_001003937.2:n.*495C>T | |
| NM_138448.3:c.186-50264G>A (ACYP2) | NP_612457.1:n.186-50264G>A | |
| NM_001320586.1:c.405-50264G>A (ACYP2) | NP_001307515.1:n.405-50264G>A | |
| NM_001320587.1:c.312-50264G>A (ACYP2) | NP_001307516.1:n.312-50264G>A | |
| NM_001320588.1:c.114-50264G>A (ACYP2) | NP_001307517.1:n.114-50264G>A | |
| NM_001320589.1:c.186-12872G>A (ACYP2) | NP_001307518.1:n.186-12872G>A | |
| XM_017005411.1:c.486-50264G>A (ACYP2) | XP_016860900.1:n.486-50264G>A | |
| XM_017005412.1:c.486-12872G>A (ACYP2) | XP_016860901.1:n.486-12872G>A | |
| XM_017005413.1:c.*23-50264G>A (ACYP2) | XP_016860902.1:n.*23-50264G>A | |
| XR_001739083.1:n.1092+31341G>A (ACYP2) | ||
| NM_001003937.3:c.*495C>T (TSPYL6) MANE Select | NP_001003937.2:n.*495C>T | |
| NM_001320586.2:c.405-50264G>A (ACYP2) | NP_001307515.1:n.405-50264G>A | |
| NM_001320587.2:c.312-50264G>A (ACYP2) | NP_001307516.1:n.312-50264G>A | |
| NM_001320588.2:c.114-50264G>A (ACYP2) | NP_001307517.1:n.114-50264G>A | |
| NM_001320589.2:c.186-12872G>A (ACYP2) | NP_001307518.1:n.186-12872G>A | |
| NM_138448.4:c.186-50264G>A (ACYP2) MANE Select | NP_612457.1:n.186-50264G>A |