Canonical Allele Identifier: CA891843613

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 584463
• ClinVar RCV Id: RCV003493717
• dbSNP Id: rs1566219199
• MyVariant Identifiers: chr13:g.32900656dup (hg19) ; chr13:g.32326519dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326519dup , CM000675.2:g.32326519dup	GRCh38
NC_000013.10:g.32900656dup , CM000675.1:g.32900656dup	GRCh37
NC_000013.9:g.31798656dup	NCBI36
NG_012772.3:g.16040dup , LRG_293:g.16040dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.537dup	ENSP00000434898.2:p.Ile180TyrfsTer3
ENST00000528762.2:c.537dup	ENSP00000433168.2:p.Ile180TyrfsTer3
ENST00000530893.7:c.168dup	ENSP00000499438.2:p.Ile57TyrfsTer3
ENST00000665585.2:c.537dup	ENSP00000499570.2:p.Ile180TyrfsTer3
ENST00000666593.2:c.537dup	ENSP00000499256.2:p.Ile180TyrfsTer3
ENST00000700202.2:c.537dup	ENSP00000514856.2:p.Ile180TyrfsTer3
ENST00000700200.1:n.408dup
ENST00000700201.1:c.*316dup	ENSP00000514855.1:n.*316dup
ENST00000380152.8:c.537dup MANE Select	ENSP00000369497.3:p.Ile180TyrfsTer3
ENST00000544455.6:c.537dup	ENSP00000439902.1:p.Ile180TyrfsTer3
ENST00000614259.2:c.537dup	ENSP00000506251.1:p.Ile180TyrfsTer3
ENST00000680887.1:c.537dup	ENSP00000505508.1:p.Ile180TyrfsTer3
ENST00000380152.7:c.537dup	ENSP00000369497.3:p.Ile180TyrfsTer3
ENST00000530893.6:n.735dup
ENST00000544455.5:c.537dup	ENSP00000439902.1:p.Ile180TyrfsTer3
ENST00000614259.1:n.537dup
NM_000059.3:c.537dup , LRG_293t1:c.537dup	NP_000050.2:p.Ile180TyrfsTer3
XM_011535203.1:c.537dup	XP_011533505.1:p.Ile180TyrfsTer3
XM_011535204.1:c.537dup	XP_011533506.1:p.Ile180TyrfsTer3
XM_011535205.1:c.537dup	XP_011533507.1:p.Ile180TyrfsTer3
NM_000059.4:c.537dup MANE Select	NP_000050.3:p.Ile180TyrfsTer3