Canonical Allele Identifier: CA247490361

Gene: BRCA2

Linked Data

• dbSNP Id: rs925472258
• gnomAD v3: 13-32376532-AAAAG-A
• gnomAD v4: 13-32376532-AAAAG-A
• MyVariant Identifiers: chr13:g.32950670_32950673del (hg19) ; chr13:g.32376533_32376536del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376536_32376539del , CM000675.2:g.32376536_32376539del	GRCh38
NC_000013.10:g.32950673_32950676del , CM000675.1:g.32950673_32950676del	GRCh37
NC_000013.9:g.31848673_31848676del	NCBI36
NG_012772.3:g.66057_66060del , LRG_293:g.66057_66060del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8633-134_8633-131del	ENSP00000434898.2:n.8633-134_8633-131del
ENST00000528762.2:c.8697-134_8697-131del	ENSP00000433168.2:n.8697-134_8697-131del
ENST00000530893.7:c.8264-134_8264-131del	ENSP00000499438.2:n.8264-134_8264-131del
ENST00000665585.2:c.*195-134_*195-131del	ENSP00000499570.2:n.*195-134_*195-131del
ENST00000666593.2:c.8633-134_8633-131del	ENSP00000499256.2:n.8633-134_8633-131del
ENST00000700202.2:c.8633-134_8633-131del	ENSP00000514856.2:n.8633-134_8633-131del
ENST00000700202.1:c.1100-134_1100-131del	ENSP00000514856.1:n.1100-134_1100-131del
ENST00000700203.1:n.626_629del
ENST00000380152.8:c.8633-134_8633-131del MANE Select	ENSP00000369497.3:n.8633-134_8633-131del
ENST00000544455.6:c.8633-134_8633-131del	ENSP00000439902.1:n.8633-134_8633-131del
ENST00000614259.2:c.8641-134_8641-131del	ENSP00000506251.1:n.8641-134_8641-131del
ENST00000665585.1:c.1511-134_1511-131del
ENST00000680887.1:c.8633-134_8633-131del	ENSP00000505508.1:n.8633-134_8633-131del
ENST00000380152.7:c.8633-134_8633-131del	ENSP00000369497.3:n.8633-134_8633-131del
ENST00000528762.1:c.195-134_195-131del	ENSP00000433168.1:n.195-134_195-131del
ENST00000544455.5:c.8633-134_8633-131del	ENSP00000439902.1:n.8633-134_8633-131del
NM_000059.3:c.8633-134_8633-131del , LRG_293t1:c.8633-134_8633-131del	NP_000050.2:n.8633-134_8633-131del
XM_011535203.1:c.8633-134_8633-131del	XP_011533505.1:n.8633-134_8633-131del
XM_011535204.1:c.8537-134_8537-131del	XP_011533506.1:n.8537-134_8537-131del
XM_011535205.1:c.8633-134_8633-131del	XP_011533507.1:n.8633-134_8633-131del
NM_000059.4:c.8633-134_8633-131del MANE Select	NP_000050.3:n.8633-134_8633-131del