Canonical Allele Identifier: CA387765996

Gene: BRCA2

Linked Data

• dbSNP Id: rs1555289960
• MyVariant Identifiers: chr13:g.32972439G>C (hg19) ; chr13:g.32398302G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398302G>C , CM000675.2:g.32398302G>C	GRCh38
NC_000013.10:g.32972439G>C , CM000675.1:g.32972439G>C	GRCh37
NC_000013.9:g.31870439G>C	NCBI36
NG_012772.3:g.87823G>C , LRG_293:g.87823G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*312G>C	ENSP00000434898.2:n.*312G>C
ENST00000528762.2:c.*1156G>C	ENSP00000433168.2:n.*1156G>C
ENST00000530893.7:c.9420G>C	ENSP00000499438.2:p.Lys3140Asn
ENST00000665585.2:c.*1351G>C	ENSP00000499570.2:n.*1351G>C
ENST00000700202.2:c.9738G>C	ENSP00000514856.2:p.Lys3246Asn
ENST00000700202.1:c.2205G>C	ENSP00000514856.1:p.Lys735Asn
ENST00000700203.1:n.1916G>C
ENST00000380152.8:c.9789G>C MANE Select	ENSP00000369497.3:p.Lys3263Asn
ENST00000544455.6:c.9789G>C	ENSP00000439902.1:p.Lys3263Asn
ENST00000614259.2:c.9797G>C	ENSP00000506251.1:n.9797G>C
ENST00000680887.1:c.9789G>C	ENSP00000505508.1:p.Lys3263Asn
ENST00000380152.7:c.9789G>C	ENSP00000369497.3:p.Lys3263Asn
ENST00000533776.1:n.377G>C
ENST00000544455.5:c.9789G>C	ENSP00000439902.1:p.Lys3263Asn
NM_000059.3:c.9789G>C , LRG_293t1:c.9789G>C	NP_000050.2:p.Lys3263Asn
XM_011535203.1:c.9789G>C	XP_011533505.1:p.Lys3263Asn
XM_011535204.1:c.9693G>C	XP_011533506.1:p.Lys3231Asn
NM_000059.4:c.9789G>C MANE Select	NP_000050.3:p.Lys3263Asn