Linked Data
dbSNP Id:
rs780412339
ExAC:
2:215797390 C / CACTT
gnomAD v2:
2-215797390-C-CACTT
gnomAD v3:
2-214932666-C-CACTT
gnomAD v4:
2-214932666-C-CACTT
MyVariant Identifiers:
chr2:g.215797390_215797391insACTT (hg19)
chr2:g.214932666_214932667insACTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214932668_214932671dup , CM000664.2:g.214932668_214932671dup | GRCh38 |
| NC_000002.11:g.215797392_215797395dup , CM000664.1:g.215797392_215797395dup | GRCh37 |
| NC_000002.10:g.215505637_215505640dup | NCBI36 |
| NG_007074.1:g.210758_210761dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.7752_7755dup (ABCA12) MANE Select | ENSP00000272895.7:p.Val2586LysfsTer3 | |
| ENST00000272895.11:c.7752_7755dup (ABCA12) | ENSP00000272895.7:p.Val2586LysfsTer3 | |
| ENST00000389661.4:c.6798_6801dup (ABCA12) | ENSP00000374312.4:p.Val2268LysfsTer3 | |
| NM_015657.3:c.6798_6801dup (ABCA12) | NP_056472.2:p.Val2268LysfsTer3 | |
| NM_173076.2:c.7752_7755dup (ABCA12) | NP_775099.2:p.Val2586LysfsTer3 | |
| NR_103740.1:n.8052_8055dup (ABCA12) | ||
| NR_110292.1:n.322-15157_322-15154dup (SNHG31) | ||
| XM_011510951.1:c.7761_7764dup (ABCA12) | XP_011509253.1:p.Val2589LysfsTer3 | |
| XM_011510951.2:c.7761_7764dup (ABCA12) | XP_011509253.1:p.Val2589LysfsTer3 | |
| NM_173076.3:c.7752_7755dup (ABCA12) MANE Select | NP_775099.2:p.Val2586LysfsTer3 | |
| NR_103740.2:n.8250_8253dup (ABCA12) | ||
| NM_015657.4:c.6798_6801dup (ABCA12) | NP_056472.2:p.Val2268LysfsTer3 |