Canonical Allele Identifier: CA6941459

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462542
• ClinVar RCV Id: RCV000539984 ; RCV002384091
• dbSNP Id: rs745685382
• ExAC: 13:32972605 TCTC / T
• gnomAD v2: 13-32972605-TCTC-T
• gnomAD v4: 13-32398468-TCTC-T
• MyVariant Identifiers: chr13:g.32972609_32972611del (hg19) ; chr13:g.32972606_32972608del (hg19) ; chr13:g.32398472_32398474del (hg38) ; chr13:g.32398469_32398471del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398472_32398474del , CM000675.2:g.32398472_32398474del	GRCh38
NC_000013.10:g.32972609_32972611del , CM000675.1:g.32972609_32972611del	GRCh37
NC_000013.9:g.31870609_31870611del	NCBI36
NG_012772.3:g.87993_87995del , LRG_293:g.87993_87995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*482_*484del	ENSP00000434898.2:n.*482_*484del
ENST00000528762.2:c.*1326_*1328del	ENSP00000433168.2:n.*1326_*1328del
ENST00000530893.7:c.9590_9592del	ENSP00000499438.2:p.Pro3197del
ENST00000665585.2:c.*1521_*1523del	ENSP00000499570.2:n.*1521_*1523del
ENST00000700202.2:c.9908_9910del	ENSP00000514856.2:p.Pro3303del
ENST00000700202.1:c.2375_2377del	ENSP00000514856.1:p.Pro792del
ENST00000700203.1:n.2086_2088del
ENST00000380152.8:c.9959_9961del MANE Select	ENSP00000369497.3:p.Pro3320del
ENST00000544455.6:c.9959_9961del	ENSP00000439902.1:p.Pro3320del
ENST00000614259.2:c.9967_9969del	ENSP00000506251.1:n.9967_9969del
ENST00000680887.1:c.9959_9961del	ENSP00000505508.1:p.Pro3320del
ENST00000380152.7:c.9959_9961del	ENSP00000369497.3:p.Pro3320del
ENST00000544455.5:c.9959_9961del	ENSP00000439902.1:p.Pro3320del
NM_000059.3:c.9959_9961del , LRG_293t1:c.9959_9961del	NP_000050.2:p.Pro3320del
XM_011535203.1:c.9959_9961del	XP_011533505.1:p.Pro3320del
XM_011535204.1:c.9863_9865del	XP_011533506.1:p.Pro3288del
NM_000059.4:c.9959_9961del MANE Select	NP_000050.3:p.Pro3320del