Canonical Allele Identifier: CA387765414

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972357A>C (hg19) ; chr13:g.32398220A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398220A>C , CM000675.2:g.32398220A>C	GRCh38
NC_000013.10:g.32972357A>C , CM000675.1:g.32972357A>C	GRCh37
NC_000013.9:g.31870357A>C	NCBI36
NG_012772.3:g.87741A>C , LRG_293:g.87741A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*230A>C	ENSP00000434898.2:n.*230A>C
ENST00000528762.2:c.*1074A>C	ENSP00000433168.2:n.*1074A>C
ENST00000530893.7:c.9338A>C	ENSP00000499438.2:p.Lys3113Thr
ENST00000665585.2:c.*1269A>C	ENSP00000499570.2:n.*1269A>C
ENST00000700202.2:c.9656A>C	ENSP00000514856.2:p.Lys3219Thr
ENST00000700202.1:c.2123A>C	ENSP00000514856.1:p.Lys708Thr
ENST00000700203.1:n.1834A>C
ENST00000380152.8:c.9707A>C MANE Select	ENSP00000369497.3:p.Lys3236Thr
ENST00000544455.6:c.9707A>C	ENSP00000439902.1:p.Lys3236Thr
ENST00000614259.2:c.9715A>C	ENSP00000506251.1:n.9715A>C
ENST00000665585.1:c.2585A>C
ENST00000680887.1:c.9707A>C	ENSP00000505508.1:p.Lys3236Thr
ENST00000380152.7:c.9707A>C	ENSP00000369497.3:p.Lys3236Thr
ENST00000470094.1:c.790A>C
ENST00000533776.1:n.295A>C
ENST00000544455.5:c.9707A>C	ENSP00000439902.1:p.Lys3236Thr
NM_000059.3:c.9707A>C , LRG_293t1:c.9707A>C	NP_000050.2:p.Lys3236Thr
XM_011535203.1:c.9707A>C	XP_011533505.1:p.Lys3236Thr
XM_011535204.1:c.9611A>C	XP_011533506.1:p.Lys3204Thr
NM_000059.4:c.9707A>C MANE Select	NP_000050.3:p.Lys3236Thr