Canonical Allele Identifier: CA609453778

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 481578
• ClinVar RCV Id: RCV000574885 ; RCV000698664
• dbSNP Id: rs1555283051
• gnomAD v2: 13-32911589-GAT-G
• gnomAD v3: 13-32337452-GAT-G
• gnomAD v4: 13-32337452-GAT-G
• MyVariant Identifiers: chr13:g.32911592_32911593del (hg19) ; chr13:g.32911590_32911591del (hg19) ; chr13:g.32337455_32337456del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337455_32337456del , CM000675.2:g.32337455_32337456del	GRCh38
NC_000013.10:g.32911592_32911593del , CM000675.1:g.32911592_32911593del	GRCh37
NC_000013.9:g.31809592_31809593del	NCBI36
NG_012772.3:g.26976_26977del , LRG_293:g.26976_26977del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.3100_3101del	ENSP00000434898.2:p.Ile1034Ter
ENST00000528762.2:c.3100_3101del	ENSP00000433168.2:p.Ile1034Ter
ENST00000530893.7:c.2731_2732del	ENSP00000499438.2:p.Ile911Ter
ENST00000665585.2:c.3100_3101del	ENSP00000499570.2:p.Ile1034Ter
ENST00000666593.2:c.3100_3101del	ENSP00000499256.2:p.Ile1034Ter
ENST00000700202.2:c.3100_3101del	ENSP00000514856.2:p.Ile1034Ter
ENST00000380152.8:c.3100_3101del MANE Select	ENSP00000369497.3:p.Ile1034Ter
ENST00000544455.6:c.3100_3101del	ENSP00000439902.1:p.Ile1034Ter
ENST00000614259.2:c.3100_3101del	ENSP00000506251.1:p.Ile1034Ter
ENST00000680887.1:c.3100_3101del	ENSP00000505508.1:p.Ile1034Ter
ENST00000380152.7:c.3100_3101del	ENSP00000369497.3:p.Ile1034Ter
ENST00000544455.5:c.3100_3101del	ENSP00000439902.1:p.Ile1034Ter
ENST00000614259.1:n.3100_3101del
NM_000059.3:c.3100_3101del , LRG_293t1:c.3100_3101del	NP_000050.2:p.Ile1034Ter
XM_011535203.1:c.3100_3101del	XP_011533505.1:p.Ile1034Ter
XM_011535204.1:c.3100_3101del	XP_011533506.1:p.Ile1034Ter
XM_011535205.1:c.3100_3101del	XP_011533507.1:p.Ile1034Ter
NM_000059.4:c.3100_3101del MANE Select	NP_000050.3:p.Ile1034Ter