Linked Data
dbSNP Id:
rs751059873
ExAC:
2:189923651 A / AAG
gnomAD v2:
2-189923651-A-AAG
gnomAD v3:
2-189058925-A-AAG
gnomAD v4:
2-189058925-A-AAG
MyVariant Identifiers:
chr2:g.189923651_189923652insAG (hg19)
chr2:g.189058925_189058926insAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189058928_189058929dup , CM000664.2:g.189058928_189058929dup | GRCh38 |
| NC_000002.11:g.189923654_189923655dup , CM000664.1:g.189923654_189923655dup | GRCh37 |
| NC_000002.10:g.189631899_189631900dup | NCBI36 |
| NG_011799.1:g.125953_125954dup | |
| NG_011799.2:g.125953_125954dup | |
| NG_011799.3:g.171375_171376dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2086-34_2086-33dup MANE Select | ENSP00000364000.3:n.2086-34_2086-33dup | |
| ENST00000374866.7:c.2086-34_2086-33dup | ENSP00000364000.3:n.2086-34_2086-33dup | |
| ENST00000470524.2:n.192-34_192-33dup | ||
| ENST00000618828.1:c.925-34_925-33dup | ENSP00000482184.1:n.925-34_925-33dup | |
| NM_000393.3:c.2086-34_2086-33dup | NP_000384.2:n.2086-34_2086-33dup | |
| XM_011510573.1:c.1948-34_1948-33dup | XP_011508875.1:n.1948-34_1948-33dup | |
| NM_000393.4:c.2086-34_2086-33dup | NP_000384.2:n.2086-34_2086-33dup | |
| XM_011510573.3:c.1948-34_1948-33dup | XP_011508875.1:n.1948-34_1948-33dup | |
| NM_000393.5:c.2086-34_2086-33dup MANE Select | NP_000384.2:n.2086-34_2086-33dup |