Canonical Allele Identifier: CA2195481428
Gene: SV2B HGNC NCBI

Linked Data

dbSNP Id: rs2044217724

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91174072T>C , CM000677.2:g.91174072T>C GRCh38
NC_000015.9:g.91717302T>C , CM000677.1:g.91717302T>C GRCh37
NC_000015.8:g.89518306T>C NCBI36
NG_051558.1:g.79352T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394232.6:c.-391-51801T>C MANE Select ENSP00000377779.1:n.-391-51801T>C
ENST00000394232.5:c.-391-51801T>C ENSP00000377779.1:n.-391-51801T>C
ENST00000545111.6:c.-3+73709T>C ENSP00000443243.2:n.-3+73709T>C
ENST00000557291.1:n.493+71752T>C
ENST00000557410.5:c.-392+45262T>C ENSP00000450992.1:n.-392+45262T>C
NM_001167580.1:c.-3+73709T>C NP_001161052.1:n.-3+73709T>C
NM_014848.4:c.-392+45262T>C NP_055663.1:n.-392+45262T>C
XM_005254997.3:c.-391-51801T>C XP_005255054.1:n.-391-51801T>C
XM_011522263.1:c.-391-51801T>C XP_011520565.1:n.-391-51801T>C
XM_011522264.1:c.-391-51801T>C XP_011520566.1:n.-391-51801T>C
NM_001167580.2:c.-3+73709T>C NP_001161052.1:n.-3+73709T>C
NM_001323031.2:c.-391-51801T>C NP_001309960.1:n.-391-51801T>C
NM_001323032.2:c.-391-51801T>C NP_001309961.1:n.-391-51801T>C
NM_001323033.2:c.-391-51801T>C NP_001309962.1:n.-391-51801T>C
NM_001323034.2:c.-391-51801T>C NP_001309963.1:n.-391-51801T>C
NM_001323036.2:c.22+72974T>C NP_001309965.1:n.22+72974T>C
NM_001323037.2:c.-392+45262T>C NP_001309966.1:n.-392+45262T>C
NM_001323038.2:c.-391-51801T>C NP_001309967.1:n.-391-51801T>C
NM_001323039.2:c.-391-51801T>C NP_001309968.1:n.-391-51801T>C
NM_001323040.2:c.-3+45262T>C NP_001309969.1:n.-3+45262T>C
NM_014848.6:c.-392+45262T>C NP_055663.1:n.-392+45262T>C
NM_001167580.3:c.-3+73709T>C NP_001161052.1:n.-3+73709T>C
NM_001323032.3:c.-391-51801T>C MANE Select NP_001309961.1:n.-391-51801T>C
NM_001323033.3:c.-391-51801T>C NP_001309962.1:n.-391-51801T>C
NM_001323034.3:c.-391-51801T>C NP_001309963.1:n.-391-51801T>C
NM_001323036.3:c.22+72974T>C NP_001309965.1:n.22+72974T>C
NM_001323037.3:c.-392+45262T>C NP_001309966.1:n.-392+45262T>C
NM_001323038.3:c.-391-51801T>C NP_001309967.1:n.-391-51801T>C
NM_001323039.3:c.-391-51801T>C NP_001309968.1:n.-391-51801T>C
NM_001323040.3:c.-3+45262T>C NP_001309969.1:n.-3+45262T>C
NM_014848.7:c.-392+45262T>C NP_055663.1:n.-392+45262T>C