Canonical Allele Identifier: CA891843578

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 581007
• ClinVar RCV Id: RCV000704709
• dbSNP Id: rs1566252577

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379361_32379362delinsAA , CM000675.2:g.32379361_32379362delinsAA	GRCh38
NC_000013.10:g.32953498_32953499delinsAA , CM000675.1:g.32953498_32953499delinsAA	GRCh37
NC_000013.9:g.31851498_31851499delinsAA	NCBI36
NG_012772.3:g.68882_68883delinsAA , LRG_293:g.68882_68883delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8799_8800delinsAA	ENSP00000434898.2:p.Gln2934Lys
ENST00000528762.2:c.*166_*167delinsAA	ENSP00000433168.2:n.*166_*167delinsAA
ENST00000530893.7:c.8430_8431delinsAA	ENSP00000499438.2:p.Gln2811Lys
ENST00000665585.2:c.*361_*362delinsAA	ENSP00000499570.2:n.*361_*362delinsAA
ENST00000666593.2:c.8799_8800delinsAA	ENSP00000499256.2:p.Gln2934Lys
ENST00000700202.2:c.8799_8800delinsAA	ENSP00000514856.2:p.Gln2934Lys
ENST00000700202.1:c.1266_1267delinsAA	ENSP00000514856.1:p.Gln423Lys
ENST00000700203.1:n.926_927delinsAA
ENST00000380152.8:c.8799_8800delinsAA MANE Select	ENSP00000369497.3:p.Gln2934Lys
ENST00000544455.6:c.8799_8800delinsAA	ENSP00000439902.1:p.Gln2934Lys
ENST00000614259.2:c.8807_8808delinsAA	ENSP00000506251.1:n.8807_8808delinsAA
ENST00000665585.1:c.1677_1678delinsAA
ENST00000680887.1:c.8799_8800delinsAA	ENSP00000505508.1:p.Gln2934Lys
ENST00000380152.7:c.8799_8800delinsAA	ENSP00000369497.3:p.Gln2934Lys
ENST00000528762.1:c.361_362delinsAA	ENSP00000433168.1:n.361_362delinsAA
ENST00000544455.5:c.8799_8800delinsAA	ENSP00000439902.1:p.Gln2934Lys
NM_000059.3:c.8799_8800delinsAA , LRG_293t1:c.8799_8800delinsAA	NP_000050.2:p.Gln2934Lys
XM_011535203.1:c.8799_8800delinsAA	XP_011533505.1:p.Gln2934Lys
XM_011535204.1:c.8703_8704delinsAA	XP_011533506.1:p.Gln2902Lys
XM_011535205.1:c.8755-389_8755-388delinsAA	XP_011533507.1:n.8755-389_8755-388delinsAA
NM_000059.4:c.8799_8800delinsAA MANE Select	NP_000050.3:p.Gln2934Lys