Canonical Allele Identifier: CA913190453

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 619798
• ClinVar RCV Id: RCV002388381
• dbSNP Id: rs1566261344

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398546_32398548delinsTCT , CM000675.2:g.32398546_32398548delinsTCT	GRCh38
NC_000013.10:g.32972683_32972685delinsTCT , CM000675.1:g.32972683_32972685delinsTCT	GRCh37
NC_000013.9:g.31870683_31870685delinsTCT	NCBI36
NG_012772.3:g.88067_88069delinsTCT , LRG_293:g.88067_88069delinsTCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*556_*558delinsTCT	ENSP00000434898.2:n.*556_*558delinsTCT
ENST00000528762.2:c.*1400_*1402delinsTCT	ENSP00000433168.2:n.*1400_*1402delinsTCT
ENST00000530893.7:c.9664_9666delinsTCT	ENSP00000499438.2:p.Ala3222Ser
ENST00000665585.2:c.*1595_*1597delinsTCT	ENSP00000499570.2:n.*1595_*1597delinsTCT
ENST00000700202.2:c.9982_9984delinsTCT	ENSP00000514856.2:p.Ala3328Ser
ENST00000700202.1:c.2449_2451delinsTCT	ENSP00000514856.1:p.Ala817Ser
ENST00000700203.1:n.2160_2162delinsTCT
ENST00000380152.8:c.10033_10035delinsTCT MANE Select	ENSP00000369497.3:p.Ala3345Ser
ENST00000544455.6:c.10033_10035delinsTCT	ENSP00000439902.1:p.Ala3345Ser
ENST00000614259.2:c.10041_10043delinsTCT	ENSP00000506251.1:n.10041_10043delinsTCT
ENST00000680887.1:c.10033_10035delinsTCT	ENSP00000505508.1:p.Ala3345Ser
ENST00000380152.7:c.10033_10035delinsTCT	ENSP00000369497.3:p.Ala3345Ser
ENST00000544455.5:c.10033_10035delinsTCT	ENSP00000439902.1:p.Ala3345Ser
NM_000059.3:c.10033_10035delinsTCT , LRG_293t1:c.10033_10035delinsTCT	NP_000050.2:p.Ala3345Ser
XM_011535203.1:c.10033_10035delinsTCT	XP_011533505.1:p.Ala3345Ser
XM_011535204.1:c.9937_9939delinsTCT	XP_011533506.1:p.Ala3313Ser
NM_000059.4:c.10033_10035delinsTCT MANE Select	NP_000050.3:p.Ala3345Ser