Canonical Allele Identifier: CA387765243

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972330A>C (hg19) ; chr13:g.32398193A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398193A>C , CM000675.2:g.32398193A>C	GRCh38
NC_000013.10:g.32972330A>C , CM000675.1:g.32972330A>C	GRCh37
NC_000013.9:g.31870330A>C	NCBI36
NG_012772.3:g.87714A>C , LRG_293:g.87714A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*203A>C	ENSP00000434898.2:n.*203A>C
ENST00000528762.2:c.*1047A>C	ENSP00000433168.2:n.*1047A>C
ENST00000530893.7:c.9311A>C	ENSP00000499438.2:p.Gln3104Pro
ENST00000665585.2:c.*1242A>C	ENSP00000499570.2:n.*1242A>C
ENST00000700202.2:c.9629A>C	ENSP00000514856.2:p.Gln3210Pro
ENST00000700202.1:c.2096A>C	ENSP00000514856.1:p.Gln699Pro
ENST00000700203.1:n.1807A>C
ENST00000380152.8:c.9680A>C MANE Select	ENSP00000369497.3:p.Gln3227Pro
ENST00000544455.6:c.9680A>C	ENSP00000439902.1:p.Gln3227Pro
ENST00000614259.2:c.9688A>C	ENSP00000506251.1:n.9688A>C
ENST00000665585.1:c.2558A>C
ENST00000680887.1:c.9680A>C	ENSP00000505508.1:p.Gln3227Pro
ENST00000380152.7:c.9680A>C	ENSP00000369497.3:p.Gln3227Pro
ENST00000470094.1:c.763A>C
ENST00000533776.1:n.268A>C
ENST00000544455.5:c.9680A>C	ENSP00000439902.1:p.Gln3227Pro
NM_000059.3:c.9680A>C , LRG_293t1:c.9680A>C	NP_000050.2:p.Gln3227Pro
XM_011535203.1:c.9680A>C	XP_011533505.1:p.Gln3227Pro
XM_011535204.1:c.9584A>C	XP_011533506.1:p.Gln3195Pro
NM_000059.4:c.9680A>C MANE Select	NP_000050.3:p.Gln3227Pro