Canonical Allele Identifier: CA387761000

Gene: BRCA2

Linked Data

• dbSNP Id: rs2073021753
• MyVariant Identifiers: chr13:g.32968898A>C (hg19) ; chr13:g.32394761A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394761A>C , CM000675.2:g.32394761A>C	GRCh38
NC_000013.10:g.32968898A>C , CM000675.1:g.32968898A>C	GRCh37
NC_000013.9:g.31866898A>C	NCBI36
NG_012772.3:g.84282A>C , LRG_293:g.84282A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9329A>C	ENSP00000434898.2:p.Asn3110Thr
ENST00000528762.2:c.*696A>C	ENSP00000433168.2:n.*696A>C
ENST00000530893.7:c.8960A>C	ENSP00000499438.2:p.Asn2987Thr
ENST00000665585.2:c.*891A>C	ENSP00000499570.2:n.*891A>C
ENST00000666593.2:c.*174A>C	ENSP00000499256.2:n.*174A>C
ENST00000700202.2:c.9278A>C	ENSP00000514856.2:p.Asn3093Thr
ENST00000700202.1:c.1745A>C	ENSP00000514856.1:p.Asn582Thr
ENST00000700203.1:n.1456A>C
ENST00000380152.8:c.9329A>C MANE Select	ENSP00000369497.3:p.Asn3110Thr
ENST00000544455.6:c.9329A>C	ENSP00000439902.1:p.Asn3110Thr
ENST00000614259.2:c.9337A>C	ENSP00000506251.1:n.9337A>C
ENST00000665585.1:c.2207A>C
ENST00000666593.1:c.351A>C	ENSP00000499256.1:n.351A>C
ENST00000680887.1:c.9329A>C	ENSP00000505508.1:p.Asn3110Thr
ENST00000380152.7:c.9329A>C	ENSP00000369497.3:p.Asn3110Thr
ENST00000470094.1:c.286A>C
ENST00000544455.5:c.9329A>C	ENSP00000439902.1:p.Asn3110Thr
NM_000059.3:c.9329A>C , LRG_293t1:c.9329A>C	NP_000050.2:p.Asn3110Thr
XM_011535203.1:c.9329A>C	XP_011533505.1:p.Asn3110Thr
XM_011535204.1:c.9233A>C	XP_011533506.1:p.Asn3078Thr
NM_000059.4:c.9329A>C MANE Select	NP_000050.3:p.Asn3110Thr