Canonical Allele Identifier: CA609453898

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462464
• ClinVar RCV Id: RCV000551356
• dbSNP Id: rs1249719262
• gnomAD v2: 13-32937340-CAGA-C
• gnomAD v4: 13-32363203-CAGA-C
• MyVariant Identifiers: chr13:g.32937344_32937346del (hg19) ; chr13:g.32937341_32937343del (hg19) ; chr13:g.32363207_32363209del (hg38) ; chr13:g.32363204_32363206del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363207_32363209del , CM000675.2:g.32363207_32363209del	GRCh38
NC_000013.10:g.32937344_32937346del , CM000675.1:g.32937344_32937346del	GRCh37
NC_000013.9:g.31835344_31835346del	NCBI36
NG_012772.3:g.52728_52730del , LRG_293:g.52728_52730del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8005_8007del	ENSP00000434898.2:p.Arg2669del
ENST00000528762.2:c.8005_8007del	ENSP00000433168.2:p.Arg2669del
ENST00000530893.7:c.7636_7638del	ENSP00000499438.2:p.Arg2546del
ENST00000665585.2:c.8005_8007del	ENSP00000499570.2:p.Arg2669del
ENST00000666593.2:c.8005_8007del	ENSP00000499256.2:p.Arg2669del
ENST00000700202.2:c.8005_8007del	ENSP00000514856.2:p.Arg2669del
ENST00000700202.1:c.472_474del	ENSP00000514856.1:p.Arg158del
ENST00000380152.8:c.8005_8007del MANE Select	ENSP00000369497.3:p.Arg2669del
ENST00000544455.6:c.8005_8007del	ENSP00000439902.1:p.Arg2669del
ENST00000614259.2:c.8013_8015del	ENSP00000506251.1:n.8013_8015del
ENST00000665585.1:c.570_572del
ENST00000680887.1:c.8005_8007del	ENSP00000505508.1:p.Arg2669del
ENST00000380152.7:c.8005_8007del	ENSP00000369497.3:p.Arg2669del
ENST00000544455.5:c.8005_8007del	ENSP00000439902.1:p.Arg2669del
NM_000059.3:c.8005_8007del , LRG_293t1:c.8005_8007del	NP_000050.2:p.Arg2669del
XM_011535203.1:c.8005_8007del	XP_011533505.1:p.Arg2669del
XM_011535204.1:c.7909_7911del	XP_011533506.1:p.Arg2637del
XM_011535205.1:c.8005_8007del	XP_011533507.1:p.Arg2669del
NM_000059.4:c.8005_8007del MANE Select	NP_000050.3:p.Arg2669del