Linked Data
dbSNP Id:
rs1698094916
gnomAD v3:
2-214932649-G-A
gnomAD v4:
2-214932649-G-A
MyVariant Identifiers:
chr2:g.215797373G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214932649G>A , CM000664.2:g.214932649G>A | GRCh38 |
| NC_000002.11:g.215797373G>A , CM000664.1:g.215797373G>A | GRCh37 |
| NC_000002.10:g.215505618G>A | NCBI36 |
| NG_007074.1:g.210779C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272895.12:c.7773C>T (ABCA12) MANE Select | ENSP00000272895.7:p.Asp2591= | |
| ENST00000272895.11:c.7773C>T (ABCA12) | ENSP00000272895.7:p.Asp2591= | |
| ENST00000389661.4:c.6819C>T (ABCA12) | ENSP00000374312.4:p.Asp2273= | |
| NM_015657.3:c.6819C>T (ABCA12) | NP_056472.2:p.Asp2273= | |
| NM_173076.2:c.7773C>T (ABCA12) | NP_775099.2:p.Asp2591= | |
| NR_103740.1:n.8073C>T (ABCA12) | ||
| NR_110292.1:n.322-15176G>A (SNHG31) | ||
| XM_011510951.1:c.7782C>T (ABCA12) | XP_011509253.1:p.Asp2594= | |
| XM_011510951.2:c.7782C>T (ABCA12) | XP_011509253.1:p.Asp2594= | |
| NM_173076.3:c.7773C>T (ABCA12) MANE Select | NP_775099.2:p.Asp2591= | |
| NR_103740.2:n.8271C>T (ABCA12) | ||
| NM_015657.4:c.6819C>T (ABCA12) | NP_056472.2:p.Asp2273= |