Canonical Allele Identifier: CA916080535

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 846427
• ClinVar RCV Id: RCV001049726
• dbSNP Id: rs2072351582

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326617_32326633del , CM000675.2:g.32326617_32326633del	GRCh38
NC_000013.10:g.32900754_32900770del , CM000675.1:g.32900754_32900770del	GRCh37
NC_000013.9:g.31798754_31798770del	NCBI36
NG_012772.3:g.16138_16154del , LRG_293:g.16138_16154del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.631+4_631+20del	ENSP00000434898.2:n.631+4_631+20del
ENST00000528762.2:c.631+4_631+20del	ENSP00000433168.2:n.631+4_631+20del
ENST00000530893.7:c.262+4_262+20del	ENSP00000499438.2:n.262+4_262+20del
ENST00000665585.2:c.631+4_631+20del	ENSP00000499570.2:n.631+4_631+20del
ENST00000666593.2:c.631+4_631+20del	ENSP00000499256.2:n.631+4_631+20del
ENST00000700202.2:c.631+4_631+20del	ENSP00000514856.2:n.631+4_631+20del
ENST00000700200.1:n.506_522del
ENST00000700201.1:c.*410+4_*410+20del	ENSP00000514855.1:n.*410+4_*410+20del
ENST00000380152.8:c.631+4_631+20del MANE Select	ENSP00000369497.3:n.631+4_631+20del
ENST00000544455.6:c.631+4_631+20del	ENSP00000439902.1:n.631+4_631+20del
ENST00000614259.2:c.631+4_631+20del	ENSP00000506251.1:n.631+4_631+20del
ENST00000680887.1:c.631+4_631+20del	ENSP00000505508.1:n.631+4_631+20del
ENST00000380152.7:c.631+4_631+20del	ENSP00000369497.3:n.631+4_631+20del
ENST00000530893.6:n.829+4_829+20del
ENST00000544455.5:c.631+4_631+20del	ENSP00000439902.1:n.631+4_631+20del
ENST00000614259.1:n.631+4_631+20del
NM_000059.3:c.631+4_631+20del , LRG_293t1:c.631+4_631+20del	NP_000050.2:n.631+4_631+20del
XM_011535203.1:c.631+4_631+20del	XP_011533505.1:n.631+4_631+20del
XM_011535204.1:c.631+4_631+20del	XP_011533506.1:n.631+4_631+20del
XM_011535205.1:c.631+4_631+20del	XP_011533507.1:n.631+4_631+20del
NM_000059.4:c.631+4_631+20del MANE Select	NP_000050.3:n.631+4_631+20del