Linked Data
dbSNP Id:
rs758845693
ExAC:
2:215797373 G / GTCA
gnomAD v2:
2-215797373-G-GTCA
gnomAD v4:
2-214932649-G-GTCA
MyVariant Identifiers:
chr2:g.215797373_215797374insTCA (hg19)
chr2:g.214932649_214932650insTCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214932652_214932654dup , CM000664.2:g.214932652_214932654dup | GRCh38 |
| NC_000002.11:g.215797376_215797378dup , CM000664.1:g.215797376_215797378dup | GRCh37 |
| NC_000002.10:g.215505621_215505623dup | NCBI36 |
| NG_007074.1:g.210776_210778dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272895.12:c.7770_7772dup (ABCA12) MANE Select | ENSP00000272895.7:p.Asp2591_Gln2592insAsp... | |
| ENST00000272895.11:c.7770_7772dup (ABCA12) | ENSP00000272895.7:p.Asp2591_Gln2592insAsp... | |
| ENST00000389661.4:c.6816_6818dup (ABCA12) | ENSP00000374312.4:p.Asp2273_Gln2274insAsp... | |
| NM_015657.3:c.6816_6818dup (ABCA12) | NP_056472.2:p.Asp2273_Gln2274insAsp | |
| NM_173076.2:c.7770_7772dup (ABCA12) | NP_775099.2:p.Asp2591_Gln2592insAsp | |
| NR_103740.1:n.8070_8072dup (ABCA12) | ||
| NR_110292.1:n.322-15173_322-15171dup (SNHG31) | ||
| XM_011510951.1:c.7779_7781dup (ABCA12) | XP_011509253.1:p.Asp2594_Gln2595insAsp | |
| XM_011510951.2:c.7779_7781dup (ABCA12) | XP_011509253.1:p.Asp2594_Gln2595insAsp | |
| NM_173076.3:c.7770_7772dup (ABCA12) MANE Select | NP_775099.2:p.Asp2591_Gln2592insAsp | |
| NR_103740.2:n.8268_8270dup (ABCA12) | ||
| NM_015657.4:c.6816_6818dup (ABCA12) | NP_056472.2:p.Asp2273_Gln2274insAsp |