Canonical Allele Identifier: CA380962203
Gene: BSCL2 HGNC NCBI
HNRNPUL2-BSCL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62692440G>A , CM000673.2:g.62692440G>A GRCh38
NC_000011.9:g.62459912G>A , CM000673.1:g.62459912G>A GRCh37
NC_000011.8:g.62216488G>A NCBI36
NG_008461.1:g.22135C>T
NG_033077.1:g.2460C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000412351.2:n.991C>T (BSCL2)
ENST00000449636.6:c.307C>T (BSCL2) ENSP00000405265.2:p.His103Tyr
ENST00000524862.6:c.799C>T (BSCL2) ENSP00000433888.2:p.His267Tyr
ENST00000682003.1:n.842C>T (BSCL2)
ENST00000682223.1:c.799C>T (BSCL2) ENSP00000508140.1:p.His267Tyr
ENST00000682262.1:c.631-1019C>T (BSCL2) ENSP00000507103.1:n.631-1019C>T
ENST00000682555.1:c.717C>T (BSCL2) ENSP00000507814.1:p.Ser239=
ENST00000682644.1:n.1191C>T (BSCL2)
ENST00000682794.1:n.1109C>T (BSCL2)
ENST00000683025.1:c.*446C>T (BSCL2) ENSP00000507028.1:n.*446C>T
ENST00000683296.1:c.799C>T (BSCL2) ENSP00000507725.1:p.His267Tyr
ENST00000683368.1:n.990C>T (BSCL2)
ENST00000683494.1:n.1380C>T (BSCL2)
ENST00000683846.1:n.1139C>T (BSCL2)
ENST00000683892.1:n.1301C>T (BSCL2)
ENST00000684067.1:c.799C>T (BSCL2) ENSP00000506799.1:p.His267Tyr
ENST00000684115.1:n.1380C>T (BSCL2)
ENST00000684258.1:n.1227C>T (BSCL2)
ENST00000684285.1:c.*306C>T (BSCL2) ENSP00000507669.1:n.*306C>T
ENST00000684475.1:c.664C>T (BSCL2) ENSP00000507429.1:p.His222Tyr
ENST00000684609.1:n.1191C>T (BSCL2)
ENST00000684720.1:n.1191C>T (BSCL2)
ENST00000360796.10:c.799C>T (BSCL2) MANE Select ENSP00000354032.5:p.His267Tyr
ENST00000679883.1:c.799C>T (BSCL2) ENSP00000505838.1:p.His267Tyr
ENST00000278893.11:c.607C>T (BSCL2) ENSP00000278893.7:p.His203Tyr
ENST00000301781.10:c.744C>T (BSCL2) ENSP00000301781.5:p.Ser248=
ENST00000360796.9:c.799C>T (BSCL2) ENSP00000354032.5:p.His267Tyr
ENST00000403098.6:c.121C>T (BSCL2) ENSP00000384258.2:p.His41Tyr
ENST00000403550.5:c.607C>T (BSCL2) ENSP00000385561.1:p.His203Tyr
ENST00000403734.2:c.*850C>T (HNRNPUL2-BSCL2) ENSP00000456010.1:n.*850C>T
ENST00000405837.5:c.799C>T (BSCL2) ENSP00000385332.1:p.His267Tyr
ENST00000407022.7:c.607C>T (BSCL2) ENSP00000384080.3:p.His203Tyr
ENST00000412351.1:n.397C>T (BSCL2)
ENST00000421906.5:c.607C>T (BSCL2) ENSP00000413209.1:p.His203Tyr
ENST00000448568.6:c.607C>T (BSCL2) ENSP00000413340.2:p.His203Tyr
ENST00000468505.5:n.169C>T (BSCL2)
ENST00000526426.1:n.323C>T (BSCL2)
ENST00000532115.5:n.178C>T (BSCL2)
NM_001122955.3:c.799C>T (BSCL2) NP_001116427.1:p.His267Tyr
NM_001130702.2:c.607C>T (BSCL2) NP_001124174.2:p.His203Tyr
NM_032667.6:c.607C>T (BSCL2) NP_116056.3:p.His203Tyr
NR_037946.1:n.3319C>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1401C>T (BSCL2)
NR_037949.1:n.1401C>T (BSCL2)
NM_001122955.4:c.799C>T (BSCL2) MANE Select NP_001116427.1:p.His267Tyr
NM_001386027.1:c.799C>T (BSCL2) NP_001372956.1:p.His267Tyr
NM_001386028.1:c.799C>T (BSCL2) NP_001372957.1:p.His267Tyr