WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
dbSNP Id:
rs754049448
ExAC:
2:203397273 T / TTC
gnomAD v2:
2-203397273-T-TTC
gnomAD v4:
2-202532550-T-TTC
MyVariant Identifiers:
chr2:g.203397273_203397274insTC (hg19)
chr2:g.202532550_202532551insTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202532558_202532559dup , CM000664.2:g.202532558_202532559dup | GRCh38 |
| NC_000002.11:g.203397281_203397282dup , CM000664.1:g.203397281_203397282dup | GRCh37 |
| NC_000002.10:g.203105526_203105527dup | NCBI36 |
| NG_009363.1:g.161232_161233dup , LRG_712:g.161232_161233dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.1129-27_1129-26dup MANE Select | ENSP00000363708.4:n.1129-27_1129-26dup | |
| ENST00000638587.1:c.1060-27_1060-26dup | ENSP00000491062.1:n.1060-27_1060-26dup | |
| ENST00000374574.2:c.1129-27_1129-26dup | ENSP00000363702.2:n.1129-27_1129-26dup | |
| ENST00000374580.8:c.1129-27_1129-26dup | ENSP00000363708.4:n.1129-27_1129-26dup | |
| NM_001204.6:c.1129-27_1129-26dup , LRG_712t1:c.1129-27_1129-26dup | NP_001195.2:n.1129-27_1129-26dup | |
| XM_011511687.1:c.1129-27_1129-26dup | XP_011509989.1:n.1129-27_1129-26dup | |
| XM_011511688.1:c.1129-27_1129-26dup | XP_011509990.1:n.1129-27_1129-26dup | |
| NM_001204.7:c.1129-27_1129-26dup MANE Select | NP_001195.2:n.1129-27_1129-26dup |