Canonical Allele Identifier: CA2805222403

Gene: SV2B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91174136_91174137del , CM000677.2:g.91174136_91174137del	GRCh38
NC_000015.9:g.91717366_91717367del , CM000677.1:g.91717366_91717367del	GRCh37
NC_000015.8:g.89518370_89518371del	NCBI36
NG_051558.1:g.79416_79417del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394232.6:c.-391-51737_-391-51736del MANE Select	ENSP00000377779.1:n.-391-51737_-391-51736del
ENST00000394232.5:c.-391-51737_-391-51736del	ENSP00000377779.1:n.-391-51737_-391-51736del
ENST00000545111.6:c.-3+73773_-3+73774del	ENSP00000443243.2:n.-3+73773_-3+73774del
ENST00000557291.1:n.493+71816_493+71817del
ENST00000557410.5:c.-392+45326_-392+45327del	ENSP00000450992.1:n.-392+45326_-392+45327del
NM_001167580.1:c.-3+73773_-3+73774del	NP_001161052.1:n.-3+73773_-3+73774del
NM_014848.4:c.-392+45326_-392+45327del	NP_055663.1:n.-392+45326_-392+45327del
XM_005254997.3:c.-391-51737_-391-51736del	XP_005255054.1:n.-391-51737_-391-51736del
XM_011522263.1:c.-391-51737_-391-51736del	XP_011520565.1:n.-391-51737_-391-51736del
XM_011522264.1:c.-391-51737_-391-51736del	XP_011520566.1:n.-391-51737_-391-51736del
NM_001167580.2:c.-3+73773_-3+73774del	NP_001161052.1:n.-3+73773_-3+73774del
NM_001323031.2:c.-391-51737_-391-51736del	NP_001309960.1:n.-391-51737_-391-51736del
NM_001323032.2:c.-391-51737_-391-51736del	NP_001309961.1:n.-391-51737_-391-51736del
NM_001323033.2:c.-391-51737_-391-51736del	NP_001309962.1:n.-391-51737_-391-51736del
NM_001323034.2:c.-391-51737_-391-51736del	NP_001309963.1:n.-391-51737_-391-51736del
NM_001323036.2:c.22+73038_22+73039del	NP_001309965.1:n.22+73038_22+73039del
NM_001323037.2:c.-392+45326_-392+45327del	NP_001309966.1:n.-392+45326_-392+45327del
NM_001323038.2:c.-391-51737_-391-51736del	NP_001309967.1:n.-391-51737_-391-51736del
NM_001323039.2:c.-391-51737_-391-51736del	NP_001309968.1:n.-391-51737_-391-51736del
NM_001323040.2:c.-3+45326_-3+45327del	NP_001309969.1:n.-3+45326_-3+45327del
NM_014848.6:c.-392+45326_-392+45327del	NP_055663.1:n.-392+45326_-392+45327del
NM_001167580.3:c.-3+73773_-3+73774del	NP_001161052.1:n.-3+73773_-3+73774del
NM_001323032.3:c.-391-51737_-391-51736del MANE Select	NP_001309961.1:n.-391-51737_-391-51736del
NM_001323033.3:c.-391-51737_-391-51736del	NP_001309962.1:n.-391-51737_-391-51736del
NM_001323034.3:c.-391-51737_-391-51736del	NP_001309963.1:n.-391-51737_-391-51736del
NM_001323036.3:c.22+73038_22+73039del	NP_001309965.1:n.22+73038_22+73039del
NM_001323037.3:c.-392+45326_-392+45327del	NP_001309966.1:n.-392+45326_-392+45327del
NM_001323038.3:c.-391-51737_-391-51736del	NP_001309967.1:n.-391-51737_-391-51736del
NM_001323039.3:c.-391-51737_-391-51736del	NP_001309968.1:n.-391-51737_-391-51736del
NM_001323040.3:c.-3+45326_-3+45327del	NP_001309969.1:n.-3+45326_-3+45327del
NM_014848.7:c.-392+45326_-392+45327del	NP_055663.1:n.-392+45326_-392+45327del