Canonical Allele Identifier: CA348254
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 219916
dbSNP Id: rs864622305

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32326560C>T , CM000675.2:g.32326560C>T GRCh38
NC_000013.10:g.32900697C>T , CM000675.1:g.32900697C>T GRCh37
NC_000013.9:g.31798697C>T NCBI36
NG_012772.3:g.16081C>T , LRG_293:g.16081C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.578C>T ENSP00000434898.2:p.Ser193Phe
ENST00000528762.2:c.578C>T ENSP00000433168.2:p.Ser193Phe
ENST00000530893.7:c.209C>T ENSP00000499438.2:p.Ser70Phe
ENST00000665585.2:c.578C>T ENSP00000499570.2:p.Ser193Phe
ENST00000666593.2:c.578C>T ENSP00000499256.2:p.Ser193Phe
ENST00000700202.2:c.578C>T ENSP00000514856.2:p.Ser193Phe
ENST00000700200.1:n.449C>T
ENST00000700201.1:c.*357C>T ENSP00000514855.1:n.*357C>T
ENST00000380152.8:c.578C>T MANE Select ENSP00000369497.3:p.Ser193Phe
ENST00000544455.6:c.578C>T ENSP00000439902.1:p.Ser193Phe
ENST00000614259.2:c.578C>T ENSP00000506251.1:p.Ser193Phe
ENST00000680887.1:c.578C>T ENSP00000505508.1:p.Ser193Phe
ENST00000380152.7:c.578C>T ENSP00000369497.3:p.Ser193Phe
ENST00000530893.6:n.776C>T
ENST00000544455.5:c.578C>T ENSP00000439902.1:p.Ser193Phe
ENST00000614259.1:n.578C>T
NM_000059.3:c.578C>T , LRG_293t1:c.578C>T NP_000050.2:p.Ser193Phe
XM_011535203.1:c.578C>T XP_011533505.1:p.Ser193Phe
XM_011535204.1:c.578C>T XP_011533506.1:p.Ser193Phe
XM_011535205.1:c.578C>T XP_011533507.1:p.Ser193Phe
NM_000059.4:c.578C>T MANE Select NP_000050.3:p.Ser193Phe