Linked Data
dbSNP Id:
rs1304164091
gnomAD v2:
2-73799272-T-TATATAAAC
gnomAD v3:
2-73572145-T-TATATAAAC
gnomAD v4:
2-73572145-T-TATATAAAC
MyVariant Identifiers:
chr2:g.73799272_73799273insATATAAAC (hg19)
chr2:g.73572145_73572146insATATAAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572146_73572153dup , CM000664.2:g.73572146_73572153dup | GRCh38 |
| NC_000002.11:g.73799273_73799280dup , CM000664.1:g.73799273_73799280dup | GRCh37 |
| NC_000002.10:g.73652781_73652788dup | NCBI36 |
| NG_011690.1:g.191394_191401dup , LRG_741:g.191394_191401dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10004-116_10004-109dup | ENSP00000507671.1:n.10004-116_10004-109dup | |
| ENST00000682801.1:c.10004-116_10004-109dup | ENSP00000507862.1:n.10004-116_10004-109dup | |
| ENST00000682859.1:c.10004-116_10004-109dup | ENSP00000508222.1:n.10004-116_10004-109dup | |
| ENST00000683791.1:c.3090-116_3090-109dup | ||
| ENST00000684460.1:c.7285-116_7285-109dup | ||
| ENST00000684548.1:c.10004-116_10004-109dup | ENSP00000507421.1:n.10004-116_10004-109dup | |
| ENST00000684590.1:c.4451-116_4451-109dup | ENSP00000507376.1:n.4451-116_4451-109dup | |
| ENST00000684656.1:c.7330-116_7330-109dup | ||
| ENST00000613296.6:c.10385-116_10385-109dup MANE Select | ENSP00000482968.1:n.10385-116_10385-109dup | |
| ENST00000651057.1:c.539-116_539-109dup | ENSP00000498504.1:n.539-116_539-109dup | |
| ENST00000651434.1:c.1741-116_1741-109dup | ||
| ENST00000652487.1:c.1482-116_1482-109dup | ||
| ENST00000423048.5:c.3876-116_3876-109dup | ENSP00000399833.1:n.3876-116_3876-109dup | |
| ENST00000484298.5:c.10259-116_10259-109dup | ENSP00000478155.1:n.10259-116_10259-109dup | |
| ENST00000613296.4:c.10385-116_10385-109dup | ENSP00000482968.1:n.10385-116_10385-109dup | |
| ENST00000614410.4:c.10385-116_10385-109dup | ENSP00000479094.1:n.10385-116_10385-109dup | |
| ENST00000620466.4:n.4188-116_4188-109dup | ||
| NM_015120.4:c.10388-116_10388-109dup , LRG_741t1:c.10388-116_10388-109dup | NP_055935.4:n.10388-116_10388-109dup | |
| NM_001378454.1:c.10385-116_10385-109dup MANE Select | NP_001365383.1:n.10385-116_10385-109dup |