Canonical Allele Identifier: CA609453770

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 491221
• ClinVar RCV Id: RCV000581474
• dbSNP Id: rs1488551578
• gnomAD v2: 13-32910971-AATT-A
• gnomAD v4: 13-32336834-AATT-A
• MyVariant Identifiers: chr13:g.32910974_32910976del (hg19) ; chr13:g.32910972_32910974del (hg19) ; chr13:g.32336837_32336839del (hg38) ; chr13:g.32336835_32336837del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32336837_32336839del , CM000675.2:g.32336837_32336839del	GRCh38
NC_000013.10:g.32910974_32910976del , CM000675.1:g.32910974_32910976del	GRCh37
NC_000013.9:g.31808974_31808976del	NCBI36
NG_012772.3:g.26358_26360del , LRG_293:g.26358_26360del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2482_2484del	ENSP00000434898.2:p.Tyr828del
ENST00000528762.2:c.2482_2484del	ENSP00000433168.2:p.Tyr828del
ENST00000530893.7:c.2113_2115del	ENSP00000499438.2:p.Tyr705del
ENST00000665585.2:c.2482_2484del	ENSP00000499570.2:p.Tyr828del
ENST00000666593.2:c.2482_2484del	ENSP00000499256.2:p.Tyr828del
ENST00000700202.2:c.2482_2484del	ENSP00000514856.2:p.Tyr828del
ENST00000380152.8:c.2482_2484del MANE Select	ENSP00000369497.3:p.Tyr828del
ENST00000544455.6:c.2482_2484del	ENSP00000439902.1:p.Tyr828del
ENST00000614259.2:c.2482_2484del	ENSP00000506251.1:p.Tyr828del
ENST00000680887.1:c.2482_2484del	ENSP00000505508.1:p.Tyr828del
ENST00000380152.7:c.2482_2484del	ENSP00000369497.3:p.Tyr828del
ENST00000544455.5:c.2482_2484del	ENSP00000439902.1:p.Tyr828del
ENST00000614259.1:n.2482_2484del
NM_000059.3:c.2482_2484del , LRG_293t1:c.2482_2484del	NP_000050.2:p.Tyr828del
XM_011535203.1:c.2482_2484del	XP_011533505.1:p.Tyr828del
XM_011535204.1:c.2482_2484del	XP_011533506.1:p.Tyr828del
XM_011535205.1:c.2482_2484del	XP_011533507.1:p.Tyr828del
NM_000059.4:c.2482_2484del MANE Select	NP_000050.3:p.Tyr828del