Canonical Allele Identifier: CA025986

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 126201
• ClinVar RCV Id: RCV000114049 ; RCV000131277 ; RCV000228966 ; RCV000486391 ; RCV000759683 ; RCV002483176
• dbSNP Id: rs80359749
• ExAC: 13:32954043 A / AACT
• gnomAD v2: 13-32954043-A-AACT
• gnomAD v3: 13-32379906-A-AACT
• gnomAD v4: 13-32379906-A-AACT
• MyVariant Identifiers: chr13:g.32954046_32954048dupTAC (hg19) ; chr13:g.32954043_32954044insACT (hg19) ; chr13:g.32379909_32379911dupTAC (hg38) ; chr13:g.32379906_32379907insACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379909_32379911dup , CM000675.2:g.32379909_32379911dup	GRCh38
NC_000013.10:g.32954046_32954048dup , CM000675.1:g.32954046_32954048dup	GRCh37
NC_000013.9:g.31852046_31852048dup	NCBI36
NG_012772.3:g.69430_69432dup , LRG_293:g.69430_69432dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9113_9115dup	ENSP00000434898.2:p.Leu3038_Pro3039insLeu
ENST00000528762.2:c.*480_*482dup	ENSP00000433168.2:n.*480_*482dup
ENST00000530893.7:c.8744_8746dup	ENSP00000499438.2:p.Leu2915_Pro2916insLeu
ENST00000665585.2:c.*675_*677dup	ENSP00000499570.2:n.*675_*677dup
ENST00000666593.2:c.9113_9115dup	ENSP00000499256.2:p.Leu3038_Pro3039insLeu
ENST00000700202.2:c.9062_9064dup	ENSP00000514856.2:p.Leu3021_Pro3022insLeu
ENST00000700202.1:c.1529_1531dup	ENSP00000514856.1:p.Leu510_Pro511insLeu
ENST00000700203.1:n.1240_1242dup
ENST00000380152.8:c.9113_9115dup MANE Select	ENSP00000369497.3:p.Leu3038_Pro3039insLeu
ENST00000544455.6:c.9113_9115dup	ENSP00000439902.1:p.Leu3038_Pro3039insLeu
ENST00000614259.2:c.9121_9123dup	ENSP00000506251.1:n.9121_9123dup
ENST00000665585.1:c.1991_1993dup
ENST00000680887.1:c.9113_9115dup	ENSP00000505508.1:p.Leu3038_Pro3039insLeu
ENST00000380152.7:c.9113_9115dup	ENSP00000369497.3:p.Leu3038_Pro3039insLeu
ENST00000470094.1:c.70_72dup
ENST00000544455.5:c.9113_9115dup	ENSP00000439902.1:p.Leu3038_Pro3039insLeu
NM_000059.3:c.9113_9115dup , LRG_293t1:c.9113_9115dup	NP_000050.2:p.Leu3038_Pro3039insLeu
XM_011535203.1:c.9113_9115dup	XP_011533505.1:p.Leu3038_Pro3039insLeu
XM_011535204.1:c.9017_9019dup	XP_011533506.1:p.Leu3006_Pro3007insLeu
NM_000059.4:c.9113_9115dup MANE Select	NP_000050.3:p.Leu3038_Pro3039insLeu