Linked Data
dbSNP Id:
rs1265877013
gnomAD v2:
2-54481840-GATGTTA-G
gnomAD v3:
2-54254703-GATGTTA-G
gnomAD v4:
2-54254703-GATGTTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.54254707_54254712del , CM000664.2:g.54254707_54254712del | GRCh38 |
| NC_000002.11:g.54481844_54481849del , CM000664.1:g.54481844_54481849del | GRCh37 |
| NC_000002.10:g.54335348_54335353del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394666.9:c.186-49981_186-49976del (ACYP2) MANE Select | ENSP00000378161.3:n.186-49981_186-49976del | |
| ENST00000394666.8:c.186-49981_186-49976del (ACYP2) | ENSP00000378161.3:n.186-49981_186-49976del | |
| ENST00000317802.9:c.*210_*215del (TSPYL6) MANE Select | ENSP00000417919.2:n.*210_*215del | |
| ENST00000607452.6:c.405-49981_405-49976del (ACYP2) | ENSP00000475986.1:n.405-49981_405-49976del | |
| ENST00000303536.8:c.270-12589_270-12584del (ACYP2) | ENSP00000306448.4:n.270-12589_270-12584del | |
| ENST00000317802.8:c.*210_*215del (TSPYL6) | ENSP00000417919.2:n.*210_*215del | |
| ENST00000394666.7:c.186-49981_186-49976del (ACYP2) | ENSP00000378161.3:n.186-49981_186-49976del | |
| ENST00000494922.6:c.265+31624_265+31629del (ACYP2) | ||
| ENST00000606865.1:c.138-49981_138-49976del (ACYP2) | ENSP00000475333.1:n.138-49981_138-49976del | |
| ENST00000607452.5:c.405-49981_405-49976del (ACYP2) | ENSP00000475986.1:n.405-49981_405-49976del | |
| NM_001003937.2:c.*210_*215del (TSPYL6) | NP_001003937.2:n.*210_*215del | |
| NM_138448.3:c.186-49981_186-49976del (ACYP2) | NP_612457.1:n.186-49981_186-49976del | |
| NM_001320586.1:c.405-49981_405-49976del (ACYP2) | NP_001307515.1:n.405-49981_405-49976del | |
| NM_001320587.1:c.312-49981_312-49976del (ACYP2) | NP_001307516.1:n.312-49981_312-49976del | |
| NM_001320588.1:c.114-49981_114-49976del (ACYP2) | NP_001307517.1:n.114-49981_114-49976del | |
| NM_001320589.1:c.186-12589_186-12584del (ACYP2) | NP_001307518.1:n.186-12589_186-12584del | |
| XM_017005411.1:c.486-49981_486-49976del (ACYP2) | XP_016860900.1:n.486-49981_486-49976del | |
| XM_017005412.1:c.486-12589_486-12584del (ACYP2) | XP_016860901.1:n.486-12589_486-12584del | |
| XM_017005413.1:c.*23-49981_*23-49976del (ACYP2) | XP_016860902.1:n.*23-49981_*23-49976del | |
| XR_001739083.1:n.1092+31624_1092+31629del (ACYP2) | ||
| NM_001003937.3:c.*210_*215del (TSPYL6) MANE Select | NP_001003937.2:n.*210_*215del | |
| NM_001320586.2:c.405-49981_405-49976del (ACYP2) | NP_001307515.1:n.405-49981_405-49976del | |
| NM_001320587.2:c.312-49981_312-49976del (ACYP2) | NP_001307516.1:n.312-49981_312-49976del | |
| NM_001320588.2:c.114-49981_114-49976del (ACYP2) | NP_001307517.1:n.114-49981_114-49976del | |
| NM_001320589.2:c.186-12589_186-12584del (ACYP2) | NP_001307518.1:n.186-12589_186-12584del | |
| NM_138448.4:c.186-49981_186-49976del (ACYP2) MANE Select | NP_612457.1:n.186-49981_186-49976del |