Canonical Allele Identifier: CA387765413

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 582595
• ClinVar RCV Id: RCV000706708 ; RCV003141708
• dbSNP Id: rs80359239
• MyVariant Identifiers: chr13:g.32972356A>T (hg19) ; chr13:g.32398219A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398219A>T , CM000675.2:g.32398219A>T	GRCh38
NC_000013.10:g.32972356A>T , CM000675.1:g.32972356A>T	GRCh37
NC_000013.9:g.31870356A>T	NCBI36
NG_012772.3:g.87740A>T , LRG_293:g.87740A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*229A>T	ENSP00000434898.2:n.*229A>T
ENST00000528762.2:c.*1073A>T	ENSP00000433168.2:n.*1073A>T
ENST00000530893.7:c.9337A>T	ENSP00000499438.2:p.Lys3113Ter
ENST00000665585.2:c.*1268A>T	ENSP00000499570.2:n.*1268A>T
ENST00000700202.2:c.9655A>T	ENSP00000514856.2:p.Lys3219Ter
ENST00000700202.1:c.2122A>T	ENSP00000514856.1:p.Lys708Ter
ENST00000700203.1:n.1833A>T
ENST00000380152.8:c.9706A>T MANE Select	ENSP00000369497.3:p.Lys3236Ter
ENST00000544455.6:c.9706A>T	ENSP00000439902.1:p.Lys3236Ter
ENST00000614259.2:c.9714A>T	ENSP00000506251.1:n.9714A>T
ENST00000665585.1:c.2584A>T
ENST00000680887.1:c.9706A>T	ENSP00000505508.1:p.Lys3236Ter
ENST00000380152.7:c.9706A>T	ENSP00000369497.3:p.Lys3236Ter
ENST00000470094.1:c.789A>T
ENST00000533776.1:n.294A>T
ENST00000544455.5:c.9706A>T	ENSP00000439902.1:p.Lys3236Ter
NM_000059.3:c.9706A>T , LRG_293t1:c.9706A>T	NP_000050.2:p.Lys3236Ter
XM_011535203.1:c.9706A>T	XP_011533505.1:p.Lys3236Ter
XM_011535204.1:c.9610A>T	XP_011533506.1:p.Lys3204Ter
NM_000059.4:c.9706A>T MANE Select	NP_000050.3:p.Lys3236Ter