Linked Data
ClinVar Variation Id:
775171
ClinVar RCV Id:
RCV000955286
dbSNP Id:
rs201295084
ExAC:
2:54483229 C / T
gnomAD v2:
2-54483229-C-T
gnomAD v3:
2-54256092-C-T
gnomAD v4:
2-54256092-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.54256092C>T , CM000664.2:g.54256092C>T | GRCh38 |
| NC_000002.11:g.54483229C>T , CM000664.1:g.54483229C>T | GRCh37 |
| NC_000002.10:g.54336733C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394666.9:c.186-48596C>T (ACYP2) MANE Select | ENSP00000378161.3:n.186-48596C>T | |
| ENST00000394666.8:c.186-48596C>T (ACYP2) | ENSP00000378161.3:n.186-48596C>T | |
| ENST00000317802.9:c.60G>A (TSPYL6) MANE Select | ENSP00000417919.2:p.Pro20= | |
| ENST00000607452.6:c.405-48596C>T (ACYP2) | ENSP00000475986.1:n.405-48596C>T | |
| ENST00000303536.8:c.270-11204C>T (ACYP2) | ENSP00000306448.4:n.270-11204C>T | |
| ENST00000317802.8:c.60G>A (TSPYL6) | ENSP00000417919.2:p.Pro20= | |
| ENST00000394666.7:c.186-48596C>T (ACYP2) | ENSP00000378161.3:n.186-48596C>T | |
| ENST00000494922.6:c.265+33009C>T (ACYP2) | ||
| ENST00000606865.1:c.138-48596C>T (ACYP2) | ENSP00000475333.1:n.138-48596C>T | |
| ENST00000607452.5:c.405-48596C>T (ACYP2) | ENSP00000475986.1:n.405-48596C>T | |
| NM_001003937.2:c.60G>A (TSPYL6) | NP_001003937.2:p.Pro20= | |
| NM_138448.3:c.186-48596C>T (ACYP2) | NP_612457.1:n.186-48596C>T | |
| NM_001320586.1:c.405-48596C>T (ACYP2) | NP_001307515.1:n.405-48596C>T | |
| NM_001320587.1:c.312-48596C>T (ACYP2) | NP_001307516.1:n.312-48596C>T | |
| NM_001320588.1:c.114-48596C>T (ACYP2) | NP_001307517.1:n.114-48596C>T | |
| NM_001320589.1:c.186-11204C>T (ACYP2) | NP_001307518.1:n.186-11204C>T | |
| XM_017005411.1:c.486-48596C>T (ACYP2) | XP_016860900.1:n.486-48596C>T | |
| XM_017005412.1:c.486-11204C>T (ACYP2) | XP_016860901.1:n.486-11204C>T | |
| XM_017005413.1:c.*23-48596C>T (ACYP2) | XP_016860902.1:n.*23-48596C>T | |
| XR_001739083.1:n.1092+33009C>T (ACYP2) | ||
| NM_001003937.3:c.60G>A (TSPYL6) MANE Select | NP_001003937.2:p.Pro20= | |
| NM_001320586.2:c.405-48596C>T (ACYP2) | NP_001307515.1:n.405-48596C>T | |
| NM_001320587.2:c.312-48596C>T (ACYP2) | NP_001307516.1:n.312-48596C>T | |
| NM_001320588.2:c.114-48596C>T (ACYP2) | NP_001307517.1:n.114-48596C>T | |
| NM_001320589.2:c.186-11204C>T (ACYP2) | NP_001307518.1:n.186-11204C>T | |
| NM_138448.4:c.186-48596C>T (ACYP2) MANE Select | NP_612457.1:n.186-48596C>T |