Canonical Allele Identifier: CA483439867

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137623166
• MyVariant Identifiers: chr13:g.32953993T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379856T>C , CM000675.2:g.32379856T>C	GRCh38
NC_000013.10:g.32953993T>C , CM000675.1:g.32953993T>C	GRCh37
NC_000013.9:g.31851993T>C	NCBI36
NG_012772.3:g.69377T>C , LRG_293:g.69377T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9060T>C	ENSP00000434898.2:p.Ser3020=
ENST00000528762.2:c.*427T>C	ENSP00000433168.2:n.*427T>C
ENST00000530893.7:c.8691T>C	ENSP00000499438.2:p.Ser2897=
ENST00000665585.2:c.*622T>C	ENSP00000499570.2:n.*622T>C
ENST00000666593.2:c.9060T>C	ENSP00000499256.2:p.Ser3020=
ENST00000700202.2:c.9009T>C	ENSP00000514856.2:p.Ser3003=
ENST00000700202.1:c.1476T>C	ENSP00000514856.1:p.Ser492=
ENST00000700203.1:n.1187T>C
ENST00000380152.8:c.9060T>C MANE Select	ENSP00000369497.3:p.Ser3020=
ENST00000544455.6:c.9060T>C	ENSP00000439902.1:p.Ser3020=
ENST00000614259.2:c.9068T>C	ENSP00000506251.1:n.9068T>C
ENST00000665585.1:c.1938T>C
ENST00000680887.1:c.9060T>C	ENSP00000505508.1:p.Ser3020=
ENST00000380152.7:c.9060T>C	ENSP00000369497.3:p.Ser3020=
ENST00000470094.1:c.17T>C
ENST00000544455.5:c.9060T>C	ENSP00000439902.1:p.Ser3020=
NM_000059.3:c.9060T>C , LRG_293t1:c.9060T>C	NP_000050.2:p.Ser3020=
XM_011535203.1:c.9060T>C	XP_011533505.1:p.Ser3020=
XM_011535204.1:c.8964T>C	XP_011533506.1:p.Ser2988=
NM_000059.4:c.9060T>C MANE Select	NP_000050.3:p.Ser3020=