Canonical Allele Identifier: CA012940

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51177
• ClinVar RCV Id: RCV000113215 ; RCV000496420
• dbSNP Id: rs80359299
• MyVariant Identifiers: chr13:g.32893316dupA (hg19) ; chr13:g.32319179dupA (hg38)
• PubMed: PMID:11102986

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319179dup , CM000675.2:g.32319179dup	GRCh38
NC_000013.10:g.32893316dup , CM000675.1:g.32893316dup	GRCh37
NC_000013.9:g.31791316dup	NCBI36
NG_012772.3:g.8700dup , LRG_293:g.8700dup
NG_017006.2:g.1185dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.170dup	ENSP00000434898.2:p.Tyr57Ter
ENST00000528762.2:c.170dup	ENSP00000433168.2:p.Tyr57Ter
ENST00000530893.7:c.-200dup	ENSP00000499438.2:n.-200dup
ENST00000665585.2:c.170dup	ENSP00000499570.2:p.Tyr57Ter
ENST00000666593.2:c.170dup	ENSP00000499256.2:p.Tyr57Ter
ENST00000700202.2:c.170dup	ENSP00000514856.2:p.Tyr57Ter
ENST00000700200.1:n.191+2652dup
ENST00000700201.1:c.170dup	ENSP00000514855.1:p.Tyr57Ter
ENST00000380152.8:c.170dup MANE Select	ENSP00000369497.3:p.Tyr57Ter
ENST00000544455.6:c.170dup	ENSP00000439902.1:p.Tyr57Ter
ENST00000614259.2:c.170dup	ENSP00000506251.1:p.Tyr57Ter
ENST00000680887.1:c.170dup	ENSP00000505508.1:p.Tyr57Ter
ENST00000380152.7:c.170dup	ENSP00000369497.3:p.Tyr57Ter
ENST00000530893.6:n.368dup
ENST00000544455.5:c.170dup	ENSP00000439902.1:p.Tyr57Ter
ENST00000614259.1:n.170dup
NM_000059.3:c.170dup , LRG_293t1:c.170dup	NP_000050.2:p.Tyr57Ter
XM_011535203.1:c.170dup	XP_011533505.1:p.Tyr57Ter
XM_011535204.1:c.170dup	XP_011533506.1:p.Tyr57Ter
XM_011535205.1:c.170dup	XP_011533507.1:p.Tyr57Ter
NM_000059.4:c.170dup MANE Select	NP_000050.3:p.Tyr57Ter