Canonical Allele Identifier: CA891843584

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 574149
• ClinVar RCV Id: RCV000696000
• dbSNP Id: rs1566260970

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398266_32398267delinsTC , CM000675.2:g.32398266_32398267delinsTC	GRCh38
NC_000013.10:g.32972403_32972404delinsTC , CM000675.1:g.32972403_32972404delinsTC	GRCh37
NC_000013.9:g.31870403_31870404delinsTC	NCBI36
NG_012772.3:g.87787_87788delinsTC , LRG_293:g.87787_87788delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*276_*277delinsTC	ENSP00000434898.2:n.*276_*277delinsTC
ENST00000528762.2:c.*1120_*1121delinsTC	ENSP00000433168.2:n.*1120_*1121delinsTC
ENST00000530893.7:c.9384_9385delinsTC	ENSP00000499438.2:p.Lys3128_Ser3129delins...
ENST00000665585.2:c.*1315_*1316delinsTC	ENSP00000499570.2:n.*1315_*1316delinsTC
ENST00000700202.2:c.9702_9703delinsTC	ENSP00000514856.2:p.Lys3234_Ser3235delins...
ENST00000700202.1:c.2169_2170delinsTC	ENSP00000514856.1:p.Lys723_Ser724delinsAs...
ENST00000700203.1:n.1880_1881delinsTC
ENST00000380152.8:c.9753_9754delinsTC MANE Select	ENSP00000369497.3:p.Lys3251_Ser3252delins...
ENST00000544455.6:c.9753_9754delinsTC	ENSP00000439902.1:p.Lys3251_Ser3252delins...
ENST00000614259.2:c.9761_9762delinsTC	ENSP00000506251.1:n.9761_9762delinsTC
ENST00000680887.1:c.9753_9754delinsTC	ENSP00000505508.1:p.Lys3251_Ser3252delins...
ENST00000380152.7:c.9753_9754delinsTC	ENSP00000369497.3:p.Lys3251_Ser3252delins...
ENST00000470094.1:c.836_837delinsTC
ENST00000533776.1:n.341_342delinsTC
ENST00000544455.5:c.9753_9754delinsTC	ENSP00000439902.1:p.Lys3251_Ser3252delins...
NM_000059.3:c.9753_9754delinsTC , LRG_293t1:c.9753_9754delinsTC	NP_000050.2:p.Lys3251_Ser3252delinsAsnPro...
XM_011535203.1:c.9753_9754delinsTC	XP_011533505.1:p.Lys3251_Ser3252delinsAsn...
XM_011535204.1:c.9657_9658delinsTC	XP_011533506.1:p.Lys3219_Ser3220delinsAsn...
NM_000059.4:c.9753_9754delinsTC MANE Select	NP_000050.3:p.Lys3251_Ser3252delinsAsnPro...