Canonical Allele Identifier: CA387767187

Gene: BRCA2

Linked Data

• dbSNP Id: rs876661063
• MyVariant Identifiers: chr13:g.32972587A>T (hg19) ; chr13:g.32398450A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398450A>T , CM000675.2:g.32398450A>T	GRCh38
NC_000013.10:g.32972587A>T , CM000675.1:g.32972587A>T	GRCh37
NC_000013.9:g.31870587A>T	NCBI36
NG_012772.3:g.87971A>T , LRG_293:g.87971A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*460A>T	ENSP00000434898.2:n.*460A>T
ENST00000528762.2:c.*1304A>T	ENSP00000433168.2:n.*1304A>T
ENST00000530893.7:c.9568A>T	ENSP00000499438.2:p.Lys3190Ter
ENST00000665585.2:c.*1499A>T	ENSP00000499570.2:n.*1499A>T
ENST00000700202.2:c.9886A>T	ENSP00000514856.2:p.Lys3296Ter
ENST00000700202.1:c.2353A>T	ENSP00000514856.1:p.Lys785Ter
ENST00000700203.1:n.2064A>T
ENST00000380152.8:c.9937A>T MANE Select	ENSP00000369497.3:p.Lys3313Ter
ENST00000544455.6:c.9937A>T	ENSP00000439902.1:p.Lys3313Ter
ENST00000614259.2:c.9945A>T	ENSP00000506251.1:n.9945A>T
ENST00000680887.1:c.9937A>T	ENSP00000505508.1:p.Lys3313Ter
ENST00000380152.7:c.9937A>T	ENSP00000369497.3:p.Lys3313Ter
ENST00000544455.5:c.9937A>T	ENSP00000439902.1:p.Lys3313Ter
NM_000059.3:c.9937A>T , LRG_293t1:c.9937A>T	NP_000050.2:p.Lys3313Ter
XM_011535203.1:c.9937A>T	XP_011533505.1:p.Lys3313Ter
XM_011535204.1:c.9841A>T	XP_011533506.1:p.Lys3281Ter
NM_000059.4:c.9937A>T MANE Select	NP_000050.3:p.Lys3313Ter