Canonical Allele Identifier: CA6941158

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462455
• ClinVar RCV Id: RCV000554934 ; RCV000613530 ; RCV000773100
• dbSNP Id: rs755777054
• ExAC: 13:32936645 CT / C
• gnomAD v2: 13-32936645-CT-C
• gnomAD v3: 13-32362508-CT-C
• gnomAD v4: 13-32362508-CT-C
• MyVariant Identifiers: chr13:g.32936649del (hg19) ; chr13:g.32936646del (hg19) ; chr13:g.32362512del (hg38) ; chr13:g.32362509del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362512del , CM000675.2:g.32362512del	GRCh38
NC_000013.10:g.32936649del , CM000675.1:g.32936649del	GRCh37
NC_000013.9:g.31834649del	NCBI36
NG_012772.3:g.52033del , LRG_293:g.52033del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7806-11del	ENSP00000434898.2:n.7806-11del
ENST00000528762.2:c.7806-11del	ENSP00000433168.2:n.7806-11del
ENST00000530893.7:c.7437-11del	ENSP00000499438.2:n.7437-11del
ENST00000665585.2:c.7806-11del	ENSP00000499570.2:n.7806-11del
ENST00000666593.2:c.7806-11del	ENSP00000499256.2:n.7806-11del
ENST00000700202.2:c.7806-11del	ENSP00000514856.2:n.7806-11del
ENST00000700202.1:c.273-11del	ENSP00000514856.1:n.273-11del
ENST00000380152.8:c.7806-11del MANE Select	ENSP00000369497.3:n.7806-11del
ENST00000544455.6:c.7806-11del	ENSP00000439902.1:n.7806-11del
ENST00000614259.2:c.7806-3del	ENSP00000506251.1:n.7806-3del
ENST00000665585.1:c.371-11del
ENST00000680887.1:c.7806-11del	ENSP00000505508.1:n.7806-11del
ENST00000380152.7:c.7806-11del	ENSP00000369497.3:n.7806-11del
ENST00000544455.5:c.7806-11del	ENSP00000439902.1:n.7806-11del
ENST00000614259.1:n.7806-3del
NM_000059.3:c.7806-11del , LRG_293t1:c.7806-11del	NP_000050.2:n.7806-11del
XM_011535203.1:c.7806-11del	XP_011533505.1:n.7806-11del
XM_011535204.1:c.7710-11del	XP_011533506.1:n.7710-11del
XM_011535205.1:c.7806-11del	XP_011533507.1:n.7806-11del
NM_000059.4:c.7806-11del MANE Select	NP_000050.3:n.7806-11del