Canonical Allele Identifier: CA10579459

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 231715
• ClinVar RCV Id: RCV000219448 ; RCV000661448
• dbSNP Id: rs876659317
• MyVariant Identifiers: chr13:g.32900263_32900264dupGT (hg19) ; chr13:g.32326126_32326127dupGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326126_32326127dup , CM000675.2:g.32326126_32326127dup	GRCh38
NC_000013.10:g.32900263_32900264dup , CM000675.1:g.32900263_32900264dup	GRCh37
NC_000013.9:g.31798263_31798264dup	NCBI36
NG_012772.3:g.15647_15648dup , LRG_293:g.15647_15648dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.451_452dup	ENSP00000434898.2:p.Thr152Ter
ENST00000528762.2:c.451_452dup	ENSP00000433168.2:p.Thr152Ter
ENST00000530893.7:c.82_83dup	ENSP00000499438.2:p.Thr29Ter
ENST00000665585.2:c.451_452dup	ENSP00000499570.2:p.Thr152Ter
ENST00000666593.2:c.451_452dup	ENSP00000499256.2:p.Thr152Ter
ENST00000700202.2:c.451_452dup	ENSP00000514856.2:p.Thr152Ter
ENST00000700200.1:n.322_323dup
ENST00000700201.1:c.*230_*231dup	ENSP00000514855.1:n.*230_*231dup
ENST00000380152.8:c.451_452dup MANE Select	ENSP00000369497.3:p.Thr152Ter
ENST00000544455.6:c.451_452dup	ENSP00000439902.1:p.Thr152Ter
ENST00000614259.2:c.451_452dup	ENSP00000506251.1:p.Thr152Ter
ENST00000680887.1:c.451_452dup	ENSP00000505508.1:p.Thr152Ter
ENST00000380152.7:c.451_452dup	ENSP00000369497.3:p.Thr152Ter
ENST00000530893.6:n.649_650dup
ENST00000544455.5:c.451_452dup	ENSP00000439902.1:p.Thr152Ter
ENST00000614259.1:n.451_452dup
NM_000059.3:c.451_452dup , LRG_293t1:c.451_452dup	NP_000050.2:p.Thr152Ter
XM_011535203.1:c.451_452dup	XP_011533505.1:p.Thr152Ter
XM_011535204.1:c.451_452dup	XP_011533506.1:p.Thr152Ter
XM_011535205.1:c.451_452dup	XP_011533507.1:p.Thr152Ter
NM_000059.4:c.451_452dup MANE Select	NP_000050.3:p.Thr152Ter