Linked Data
dbSNP Id:
rs746186140
ExAC:
2:215797357 G / GTT
gnomAD v2:
2-215797357-G-GTT
gnomAD v3:
2-214932633-G-GTT
gnomAD v4:
2-214932633-G-GTT
MyVariant Identifiers:
chr2:g.215797357_215797358insTT (hg19)
chr2:g.214932633_214932634insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214932634_214932635dup , CM000664.2:g.214932634_214932635dup | GRCh38 |
| NC_000002.11:g.215797358_215797359dup , CM000664.1:g.215797358_215797359dup | GRCh37 |
| NC_000002.10:g.215505603_215505604dup | NCBI36 |
| NG_007074.1:g.210793_210794dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.7787_7788dup (ABCA12) MANE Select | ENSP00000272895.7:n.7787_7788dup | |
| ENST00000272895.11:c.7787_7788dup (ABCA12) | ENSP00000272895.7:n.7787_7788dup | |
| ENST00000389661.4:c.6833_6834dup (ABCA12) | ENSP00000374312.4:n.6833_6834dup | |
| NM_015657.3:c.6833_6834dup (ABCA12) | NP_056472.2:n.6833_6834dup | |
| NM_173076.2:c.7787_7788dup (ABCA12) | NP_775099.2:n.7787_7788dup | |
| NR_103740.1:n.8087_8088dup (ABCA12) | ||
| NR_110292.1:n.322-15191_322-15190dup (SNHG31) | ||
| XM_011510951.1:c.7796_7797dup (ABCA12) | XP_011509253.1:n.7796_7797dup | |
| XM_011510951.2:c.7796_7797dup (ABCA12) | XP_011509253.1:n.7796_7797dup | |
| NM_173076.3:c.7787_7788dup (ABCA12) MANE Select | NP_775099.2:n.7787_7788dup | |
| NR_103740.2:n.8285_8286dup (ABCA12) | ||
| NM_015657.4:c.6833_6834dup (ABCA12) | NP_056472.2:n.6833_6834dup |