Linked Data
dbSNP Id:
rs1162198192
gnomAD v4:
2-214932411-G-GTGT
MyVariant Identifiers:
chr2:g.215797135_215797136insTGT (hg19)
chr2:g.214932411_214932412insTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214932414_214932416dup , CM000664.2:g.214932414_214932416dup | GRCh38 |
| NC_000002.11:g.215797138_215797140dup , CM000664.1:g.215797138_215797140dup | GRCh37 |
| NC_000002.10:g.215505383_215505385dup | NCBI36 |
| NG_007074.1:g.211014_211016dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.*220_*222dup (ABCA12) MANE Select | ENSP00000272895.7:n.*220_*222dup | |
| ENST00000272895.11:c.*220_*222dup (ABCA12) | ENSP00000272895.7:n.*220_*222dup | |
| NM_015657.3:c.*220_*222dup (ABCA12) | NP_056472.2:n.*220_*222dup | |
| NM_173076.2:c.*220_*222dup (ABCA12) | NP_775099.2:n.*220_*222dup | |
| NR_103740.1:n.8308_8310dup (ABCA12) | ||
| NR_110292.1:n.322-15411_322-15409dup (SNHG31) | ||
| XM_011510951.1:c.*220_*222dup (ABCA12) | XP_011509253.1:n.*220_*222dup | |
| XM_011510951.2:c.*220_*222dup (ABCA12) | XP_011509253.1:n.*220_*222dup | |
| NM_173076.3:c.*220_*222dup (ABCA12) MANE Select | NP_775099.2:n.*220_*222dup | |
| NR_103740.2:n.8506_8508dup (ABCA12) | ||
| NM_015657.4:c.*220_*222dup (ABCA12) | NP_056472.2:n.*220_*222dup |