Linked Data
dbSNP Id:
rs1178726110
gnomAD v3:
2-214953901-A-G
gnomAD v4:
2-214953901-A-G
MyVariant Identifiers:
chr2:g.215818625A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214953901A>G , CM000664.2:g.214953901A>G | GRCh38 |
| NC_000002.11:g.215818625A>G , CM000664.1:g.215818625A>G | GRCh37 |
| NC_000002.10:g.215526870A>G | NCBI36 |
| NG_007074.1:g.189527T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272895.12:c.6600T>C (ABCA12) MANE Select | ENSP00000272895.7:p.Phe2200= | |
| ENST00000272895.11:c.6600T>C (ABCA12) | ENSP00000272895.7:p.Phe2200= | |
| ENST00000389661.4:c.5646T>C (ABCA12) | ENSP00000374312.4:p.Phe1882= | |
| NM_015657.3:c.5646T>C (ABCA12) | NP_056472.2:p.Phe1882= | |
| NM_173076.2:c.6600T>C (ABCA12) | NP_775099.2:p.Phe2200= | |
| NR_103740.1:n.6900T>C (ABCA12) | ||
| NR_110292.1:n.444+5954A>G (SNHG31) | ||
| XM_011510951.1:c.6609T>C (ABCA12) | XP_011509253.1:p.Phe2203= | |
| XM_011510951.2:c.6609T>C (ABCA12) | XP_011509253.1:p.Phe2203= | |
| NM_173076.3:c.6600T>C (ABCA12) MANE Select | NP_775099.2:p.Phe2200= | |
| NR_103740.2:n.7098T>C (ABCA12) | ||
| NM_015657.4:c.5646T>C (ABCA12) | NP_056472.2:p.Phe1882= |