Canonical Allele Identifier: CA387765810

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972420A>C (hg19) ; chr13:g.32398283A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398283A>C , CM000675.2:g.32398283A>C	GRCh38
NC_000013.10:g.32972420A>C , CM000675.1:g.32972420A>C	GRCh37
NC_000013.9:g.31870420A>C	NCBI36
NG_012772.3:g.87804A>C , LRG_293:g.87804A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*293A>C	ENSP00000434898.2:n.*293A>C
ENST00000528762.2:c.*1137A>C	ENSP00000433168.2:n.*1137A>C
ENST00000530893.7:c.9401A>C	ENSP00000499438.2:p.Lys3134Thr
ENST00000665585.2:c.*1332A>C	ENSP00000499570.2:n.*1332A>C
ENST00000700202.2:c.9719A>C	ENSP00000514856.2:p.Lys3240Thr
ENST00000700202.1:c.2186A>C	ENSP00000514856.1:p.Lys729Thr
ENST00000700203.1:n.1897A>C
ENST00000380152.8:c.9770A>C MANE Select	ENSP00000369497.3:p.Lys3257Thr
ENST00000544455.6:c.9770A>C	ENSP00000439902.1:p.Lys3257Thr
ENST00000614259.2:c.9778A>C	ENSP00000506251.1:n.9778A>C
ENST00000680887.1:c.9770A>C	ENSP00000505508.1:p.Lys3257Thr
ENST00000380152.7:c.9770A>C	ENSP00000369497.3:p.Lys3257Thr
ENST00000533776.1:n.358A>C
ENST00000544455.5:c.9770A>C	ENSP00000439902.1:p.Lys3257Thr
NM_000059.3:c.9770A>C , LRG_293t1:c.9770A>C	NP_000050.2:p.Lys3257Thr
XM_011535203.1:c.9770A>C	XP_011533505.1:p.Lys3257Thr
XM_011535204.1:c.9674A>C	XP_011533506.1:p.Lys3225Thr
NM_000059.4:c.9770A>C MANE Select	NP_000050.3:p.Lys3257Thr