Canonical Allele Identifier: CA913190737

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 619659
• ClinVar RCV Id: RCV000758981
• dbSNP Id: rs1566260735

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398162_32398770del , CM000675.2:g.32398162_32398770del	GRCh38
NC_000013.10:g.32972299_32972907del , CM000675.1:g.32972299_32972907del	GRCh37
NC_000013.9:g.31870299_31870907del	NCBI36
NG_012772.3:g.87683_88291del , LRG_293:g.87683_88291del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*172_*780del	ENSP00000434898.2:n.*172_*780del
ENST00000528762.2:c.*1016_*1624del	ENSP00000433168.2:n.*1016_*1624del
ENST00000530893.7:c.9280_9888del	ENSP00000499438.2:p.Met3094_Ter3296del
ENST00000665585.2:c.*1211_*1819del	ENSP00000499570.2:n.*1211_*1819del
ENST00000700202.2:c.9598_10206del	ENSP00000514856.2:p.Met3200_Ter3402del
ENST00000700202.1:c.2065_2673del	ENSP00000514856.1:p.Met689_Ter891del
ENST00000700203.1:n.1776_2384del
ENST00000380152.8:c.9649_10257del MANE Select	ENSP00000369497.3:p.Met3217_Ter3419del
ENST00000544455.6:c.9649_10257del	ENSP00000439902.1:p.Met3217_Ter3419del
ENST00000614259.2:c.9657_10265del	ENSP00000506251.1:n.9657_10265del
ENST00000680887.1:c.9649_10257del	ENSP00000505508.1:p.Met3217_Ter3419del
ENST00000380152.7:c.9649_10257del	ENSP00000369497.3:p.Met3217_Ter3419del
ENST00000544455.5:c.9649_10257del	ENSP00000439902.1:p.Met3217_Ter3419del
NM_000059.3:c.9649_10257del , LRG_293t1:c.9649_10257del	NP_000050.2:p.Met3217_Ter3419del
XM_011535203.1:c.9649_10257del	XP_011533505.1:p.Met3217_Ter3419del
XM_011535204.1:c.9553_10161del	XP_011533506.1:p.Met3185_Ter3387del
NM_000059.4:c.9649_10257del MANE Select	NP_000050.3:p.Met3217_Ter3419del