Canonical Allele Identifier: CA16619787

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 420223
• ClinVar RCV Id: RCV000479615 ; RCV000562161 ; RCV001865448
• dbSNP Id: rs1064794358
• gnomAD v4: 13-32379901-TCAA-T
• MyVariant Identifiers: chr13:g.32954043_32954045del (hg19) ; chr13:g.32379906_32379908del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379906_32379908del , CM000675.2:g.32379906_32379908del	GRCh38
NC_000013.10:g.32954043_32954045del , CM000675.1:g.32954043_32954045del	GRCh37
NC_000013.9:g.31852043_31852045del	NCBI36
NG_012772.3:g.69427_69429del , LRG_293:g.69427_69429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9110_9112del	ENSP00000434898.2:p.Gln3037del
ENST00000528762.2:c.*477_*479del	ENSP00000433168.2:n.*477_*479del
ENST00000530893.7:c.8741_8743del	ENSP00000499438.2:p.Gln2914del
ENST00000665585.2:c.*672_*674del	ENSP00000499570.2:n.*672_*674del
ENST00000666593.2:c.9110_9112del	ENSP00000499256.2:p.Gln3037del
ENST00000700202.2:c.9059_9061del	ENSP00000514856.2:p.Gln3020del
ENST00000700202.1:c.1526_1528del	ENSP00000514856.1:p.Gln509del
ENST00000700203.1:n.1237_1239del
ENST00000380152.8:c.9110_9112del MANE Select	ENSP00000369497.3:p.Gln3037del
ENST00000544455.6:c.9110_9112del	ENSP00000439902.1:p.Gln3037del
ENST00000614259.2:c.9118_9120del	ENSP00000506251.1:n.9118_9120del
ENST00000665585.1:c.1988_1990del
ENST00000680887.1:c.9110_9112del	ENSP00000505508.1:p.Gln3037del
ENST00000380152.7:c.9110_9112del	ENSP00000369497.3:p.Gln3037del
ENST00000470094.1:c.67_69del
ENST00000544455.5:c.9110_9112del	ENSP00000439902.1:p.Gln3037del
NM_000059.3:c.9110_9112del , LRG_293t1:c.9110_9112del	NP_000050.2:p.Gln3037del
XM_011535203.1:c.9110_9112del	XP_011533505.1:p.Gln3037del
XM_011535204.1:c.9014_9016del	XP_011533506.1:p.Gln3005del
NM_000059.4:c.9110_9112del MANE Select	NP_000050.3:p.Gln3037del