Canonical Allele Identifier: CA387765702

Gene: BRCA2

Linked Data

• dbSNP Id: rs730881576
• MyVariant Identifiers: chr13:g.32972403G>C (hg19) ; chr13:g.32398266G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398266G>C , CM000675.2:g.32398266G>C	GRCh38
NC_000013.10:g.32972403G>C , CM000675.1:g.32972403G>C	GRCh37
NC_000013.9:g.31870403G>C	NCBI36
NG_012772.3:g.87787G>C , LRG_293:g.87787G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*276G>C	ENSP00000434898.2:n.*276G>C
ENST00000528762.2:c.*1120G>C	ENSP00000433168.2:n.*1120G>C
ENST00000530893.7:c.9384G>C	ENSP00000499438.2:p.Lys3128Asn
ENST00000665585.2:c.*1315G>C	ENSP00000499570.2:n.*1315G>C
ENST00000700202.2:c.9702G>C	ENSP00000514856.2:p.Lys3234Asn
ENST00000700202.1:c.2169G>C	ENSP00000514856.1:p.Lys723Asn
ENST00000700203.1:n.1880G>C
ENST00000380152.8:c.9753G>C MANE Select	ENSP00000369497.3:p.Lys3251Asn
ENST00000544455.6:c.9753G>C	ENSP00000439902.1:p.Lys3251Asn
ENST00000614259.2:c.9761G>C	ENSP00000506251.1:n.9761G>C
ENST00000680887.1:c.9753G>C	ENSP00000505508.1:p.Lys3251Asn
ENST00000380152.7:c.9753G>C	ENSP00000369497.3:p.Lys3251Asn
ENST00000470094.1:c.836G>C
ENST00000533776.1:n.341G>C
ENST00000544455.5:c.9753G>C	ENSP00000439902.1:p.Lys3251Asn
NM_000059.3:c.9753G>C , LRG_293t1:c.9753G>C	NP_000050.2:p.Lys3251Asn
XM_011535203.1:c.9753G>C	XP_011533505.1:p.Lys3251Asn
XM_011535204.1:c.9657G>C	XP_011533506.1:p.Lys3219Asn
NM_000059.4:c.9753G>C MANE Select	NP_000050.3:p.Lys3251Asn