Linked Data
ClinVar Variation Id:
429873
dbSNP Id:
rs1006065298
gnomAD v2:
11-62474606-T-A
gnomAD v3:
11-62707134-T-A
gnomAD v4:
11-62707134-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62707134T>A , CM000673.2:g.62707134T>A | GRCh38 |
| NC_000011.9:g.62474606T>A , CM000673.1:g.62474606T>A | GRCh37 |
| NC_000011.8:g.62231182T>A | NCBI36 |
| NG_008461.1:g.7441A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449636.6:c.-114A>T (BSCL2) | ENSP00000405265.2:n.-114A>T | |
| ENST00000524862.6:c.62A>T (BSCL2) | ENSP00000433888.2:p.Gln21Leu | |
| ENST00000682223.1:c.62A>T (BSCL2) | ENSP00000508140.1:p.Gln21Leu | |
| ENST00000682262.1:c.62A>T (BSCL2) | ENSP00000507103.1:p.Gln21Leu | |
| ENST00000682555.1:c.62A>T (BSCL2) | ENSP00000507814.1:p.Gln21Leu | |
| ENST00000682644.1:n.454A>T (BSCL2) | ||
| ENST00000682794.1:n.454A>T (BSCL2) | ||
| ENST00000683025.1:c.62A>T (BSCL2) | ENSP00000507028.1:p.Gln21Leu | |
| ENST00000683296.1:c.62A>T (BSCL2) | ENSP00000507725.1:p.Gln21Leu | |
| ENST00000683494.1:n.454A>T (BSCL2) | ||
| ENST00000683892.1:n.564A>T (BSCL2) | ||
| ENST00000684067.1:c.62A>T (BSCL2) | ENSP00000506799.1:p.Gln21Leu | |
| ENST00000684115.1:n.454A>T (BSCL2) | ||
| ENST00000684285.1:c.62A>T (BSCL2) | ENSP00000507669.1:p.Gln21Leu | |
| ENST00000684475.1:c.62A>T (BSCL2) | ENSP00000507429.1:p.Gln21Leu | |
| ENST00000684609.1:n.454A>T (BSCL2) | ||
| ENST00000684720.1:n.454A>T (BSCL2) | ||
| ENST00000360796.10:c.62A>T (BSCL2) MANE Select | ENSP00000354032.5:p.Gln21Leu | |
| ENST00000679883.1:c.62A>T (BSCL2) | ENSP00000505838.1:p.Gln21Leu | |
| ENST00000301781.10:c.62A>T (BSCL2) | ENSP00000301781.5:p.Gln21Leu | |
| ENST00000360796.9:c.62A>T (BSCL2) | ENSP00000354032.5:p.Gln21Leu | |
| ENST00000403734.2:c.*113A>T (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*113A>T | |
| ENST00000405837.5:c.62A>T (BSCL2) | ENSP00000385332.1:p.Gln21Leu | |
| ENST00000413908.1:c.62A>T (BSCL2) | ENSP00000393728.1:p.Gln21Leu | |
| ENST00000464544.1:c.62A>T (BSCL2) | ENSP00000431782.1:p.Gln21Leu | |
| ENST00000524862.5:c.62A>T (BSCL2) | ENSP00000433888.1:p.Gln21Leu | |
| ENST00000525000.5:c.11A>T (BSCL2) | ||
| ENST00000528874.1:c.62A>T (BSCL2) | ENSP00000436991.1:p.Gln21Leu | |
| ENST00000530009.1:c.62A>T (BSCL2) | ENSP00000435500.1:p.Gln21Leu | |
| ENST00000531524.5:c.62A>T (BSCL2) | ENSP00000436026.1:p.Gln21Leu | |
| ENST00000532818.5:c.62A>T (BSCL2) | ENSP00000435831.1:p.Gln21Leu | |
| ENST00000533982.1:c.-72A>T (BSCL2) | ENSP00000434149.1:n.-72A>T | |
| NM_001122955.3:c.62A>T (BSCL2) | NP_001116427.1:p.Gln21Leu | |
| NR_037946.1:n.2582A>T (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.664A>T (BSCL2) | ||
| NR_037949.1:n.664A>T (BSCL2) | ||
| XM_006718501.2:c.-218+431T>A (GNG3) | XP_006718564.1:n.-218+431T>A | |
| NM_001122955.4:c.62A>T (BSCL2) MANE Select | NP_001116427.1:p.Gln21Leu | |
| NM_001386027.1:c.62A>T (BSCL2) | NP_001372956.1:p.Gln21Leu | |
| NM_001386028.1:c.62A>T (BSCL2) | NP_001372957.1:p.Gln21Leu |