Canonical Allele Identifier: CA277920

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 4533
• ClinVar RCV Id: RCV000004791 ; RCV003311637
• dbSNP Id: rs786205070
• gnomAD v2: 11-62462161-TAC-T
• gnomAD v4: 11-62694689-TAC-T
• MyVariant Identifiers: chr11:g.62462162_62462163del (hg19) ; chr11:g.62694690_62694691del (hg38)
• PubMed: PMID:11479539

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62694690_62694691del , CM000673.2:g.62694690_62694691del	GRCh38
NC_000011.9:g.62462162_62462163del , CM000673.1:g.62462162_62462163del	GRCh37
NC_000011.8:g.62218738_62218739del	NCBI36
NG_008461.1:g.19884_19885del
NG_033077.1:g.209_210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.699_700del (BSCL2)
ENST00000449636.6:c.15_16del (BSCL2)	ENSP00000405265.2:p.Tyr6SerfsTer7
ENST00000524862.6:c.507_508del (BSCL2)	ENSP00000433888.2:p.Tyr170SerfsTer7
ENST00000682003.1:n.685_686del (BSCL2)
ENST00000682223.1:c.507_508del (BSCL2)	ENSP00000508140.1:p.Tyr170SerfsTer7
ENST00000682262.1:c.507_508del (BSCL2)	ENSP00000507103.1:p.Tyr170SerfsTer7
ENST00000682555.1:c.507_508del (BSCL2)	ENSP00000507814.1:p.Tyr170SerfsTer7
ENST00000682644.1:n.899_900del (BSCL2)
ENST00000682794.1:n.817_818del (BSCL2)
ENST00000683025.1:c.*154_*155del (BSCL2)	ENSP00000507028.1:n.*154_*155del
ENST00000683296.1:c.507_508del (BSCL2)	ENSP00000507725.1:p.Tyr170SerfsTer7
ENST00000683368.1:n.698_699del (BSCL2)
ENST00000683494.1:n.899_900del (BSCL2)
ENST00000683846.1:n.847_848del (BSCL2)
ENST00000683892.1:n.1009_1010del (BSCL2)
ENST00000684067.1:c.507_508del (BSCL2)	ENSP00000506799.1:p.Tyr170SerfsTer7
ENST00000684115.1:n.899_900del (BSCL2)
ENST00000684258.1:n.935_936del (BSCL2)
ENST00000684285.1:c.*14_*15del (BSCL2)	ENSP00000507669.1:n.*14_*15del
ENST00000684475.1:c.507_508del (BSCL2)	ENSP00000507429.1:p.Tyr170SerfsTer7
ENST00000684609.1:n.899_900del (BSCL2)
ENST00000684720.1:n.899_900del (BSCL2)
ENST00000360796.10:c.507_508del (BSCL2) MANE Select	ENSP00000354032.5:p.Tyr170SerfsTer7
ENST00000679883.1:c.507_508del (BSCL2)	ENSP00000505838.1:p.Tyr170SerfsTer7
ENST00000278893.11:c.315_316del (BSCL2)	ENSP00000278893.7:p.Tyr106SerfsTer7
ENST00000301781.10:c.507_508del (BSCL2)	ENSP00000301781.5:p.Tyr170SerfsTer7
ENST00000360796.9:c.507_508del (BSCL2)	ENSP00000354032.5:p.Tyr170SerfsTer7
ENST00000403550.5:c.315_316del (BSCL2)	ENSP00000385561.1:p.Tyr106SerfsTer7
ENST00000403734.2:c.*558_*559del (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*558_*559del
ENST00000405837.5:c.507_508del (BSCL2)	ENSP00000385332.1:p.Tyr170SerfsTer7
ENST00000407022.7:c.315_316del (BSCL2)	ENSP00000384080.3:p.Tyr106SerfsTer7
ENST00000412351.1:n.105_106del (BSCL2)
ENST00000421906.5:c.315_316del (BSCL2)	ENSP00000413209.1:p.Tyr106SerfsTer7
ENST00000448568.6:c.315_316del (BSCL2)	ENSP00000413340.2:p.Tyr106SerfsTer7
ENST00000524862.5:c.507_508del (BSCL2)	ENSP00000433888.1:p.Tyr170SerfsTer7
ENST00000525000.5:c.139_140del (BSCL2)
ENST00000526426.1:n.22_23del (BSCL2)
ENST00000530900.1:n.307_308del (BSCL2)
ENST00000531524.5:c.108_109del (BSCL2)	ENSP00000436026.1:p.Tyr37SerfsTer7
ENST00000532115.5:n.21_22del (BSCL2)
ENST00000537604.5:n.558_559del (BSCL2)
NM_001122955.3:c.507_508del (BSCL2)	NP_001116427.1:p.Tyr170SerfsTer7
NM_001130702.2:c.315_316del (BSCL2)	NP_001124174.2:p.Tyr106SerfsTer7
NM_032667.6:c.315_316del (BSCL2)	NP_116056.3:p.Tyr106SerfsTer7
NR_037946.1:n.3027_3028del (HNRNPUL2-BSCL2)
NR_037948.1:n.1109_1110del (BSCL2)
NR_037949.1:n.1109_1110del (BSCL2)
NM_001122955.4:c.507_508del (BSCL2) MANE Select	NP_001116427.1:p.Tyr170SerfsTer7
NM_001386027.1:c.507_508del (BSCL2)	NP_001372956.1:p.Tyr170SerfsTer7
NM_001386028.1:c.507_508del (BSCL2)	NP_001372957.1:p.Tyr170SerfsTer7