Canonical Allele Identifier: CA972737848

Gene: SV2B

Linked Data

• dbSNP Id: rs2044221910
• gnomAD v3: 15-91174175-T-C
• gnomAD v4: 15-91174175-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91174175T>C , CM000677.2:g.91174175T>C	GRCh38
NC_000015.9:g.91717405T>C , CM000677.1:g.91717405T>C	GRCh37
NC_000015.8:g.89518409T>C	NCBI36
NG_051558.1:g.79455T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394232.6:c.-391-51698T>C MANE Select	ENSP00000377779.1:n.-391-51698T>C
ENST00000394232.5:c.-391-51698T>C	ENSP00000377779.1:n.-391-51698T>C
ENST00000545111.6:c.-3+73812T>C	ENSP00000443243.2:n.-3+73812T>C
ENST00000557291.1:n.493+71855T>C
ENST00000557410.5:c.-392+45365T>C	ENSP00000450992.1:n.-392+45365T>C
NM_001167580.1:c.-3+73812T>C	NP_001161052.1:n.-3+73812T>C
NM_014848.4:c.-392+45365T>C	NP_055663.1:n.-392+45365T>C
XM_005254997.3:c.-391-51698T>C	XP_005255054.1:n.-391-51698T>C
XM_011522263.1:c.-391-51698T>C	XP_011520565.1:n.-391-51698T>C
XM_011522264.1:c.-391-51698T>C	XP_011520566.1:n.-391-51698T>C
NM_001167580.2:c.-3+73812T>C	NP_001161052.1:n.-3+73812T>C
NM_001323031.2:c.-391-51698T>C	NP_001309960.1:n.-391-51698T>C
NM_001323032.2:c.-391-51698T>C	NP_001309961.1:n.-391-51698T>C
NM_001323033.2:c.-391-51698T>C	NP_001309962.1:n.-391-51698T>C
NM_001323034.2:c.-391-51698T>C	NP_001309963.1:n.-391-51698T>C
NM_001323036.2:c.22+73077T>C	NP_001309965.1:n.22+73077T>C
NM_001323037.2:c.-392+45365T>C	NP_001309966.1:n.-392+45365T>C
NM_001323038.2:c.-391-51698T>C	NP_001309967.1:n.-391-51698T>C
NM_001323039.2:c.-391-51698T>C	NP_001309968.1:n.-391-51698T>C
NM_001323040.2:c.-3+45365T>C	NP_001309969.1:n.-3+45365T>C
NM_014848.6:c.-392+45365T>C	NP_055663.1:n.-392+45365T>C
NM_001167580.3:c.-3+73812T>C	NP_001161052.1:n.-3+73812T>C
NM_001323032.3:c.-391-51698T>C MANE Select	NP_001309961.1:n.-391-51698T>C
NM_001323033.3:c.-391-51698T>C	NP_001309962.1:n.-391-51698T>C
NM_001323034.3:c.-391-51698T>C	NP_001309963.1:n.-391-51698T>C
NM_001323036.3:c.22+73077T>C	NP_001309965.1:n.22+73077T>C
NM_001323037.3:c.-392+45365T>C	NP_001309966.1:n.-392+45365T>C
NM_001323038.3:c.-391-51698T>C	NP_001309967.1:n.-391-51698T>C
NM_001323039.3:c.-391-51698T>C	NP_001309968.1:n.-391-51698T>C
NM_001323040.3:c.-3+45365T>C	NP_001309969.1:n.-3+45365T>C
NM_014848.7:c.-392+45365T>C	NP_055663.1:n.-392+45365T>C