Canonical Allele Identifier: CA2697551797

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2703491
• ClinVar RCV Id: RCV003530509

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339571_32339572insAA , CM000675.2:g.32339571_32339572insAA	GRCh38
NC_000013.10:g.32913708_32913709insAA , CM000675.1:g.32913708_32913709insAA	GRCh37
NC_000013.9:g.31811708_31811709insAA	NCBI36
NG_012772.3:g.29092_29093insAA , LRG_293:g.29092_29093insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5216_5217insAA	ENSP00000434898.2:p.Tyr1739Ter
ENST00000528762.2:c.5216_5217insAA	ENSP00000433168.2:p.Tyr1739Ter
ENST00000530893.7:c.4847_4848insAA	ENSP00000499438.2:p.Tyr1616Ter
ENST00000665585.2:c.5216_5217insAA	ENSP00000499570.2:p.Tyr1739Ter
ENST00000666593.2:c.5216_5217insAA	ENSP00000499256.2:p.Tyr1739Ter
ENST00000700202.2:c.5216_5217insAA	ENSP00000514856.2:p.Tyr1739Ter
ENST00000380152.8:c.5216_5217insAA MANE Select	ENSP00000369497.3:p.Tyr1739Ter
ENST00000544455.6:c.5216_5217insAA	ENSP00000439902.1:p.Tyr1739Ter
ENST00000614259.2:c.5216_5217insAA	ENSP00000506251.1:p.Tyr1739Ter
ENST00000680887.1:c.5216_5217insAA	ENSP00000505508.1:p.Tyr1739Ter
ENST00000380152.7:c.5216_5217insAA	ENSP00000369497.3:p.Tyr1739Ter
ENST00000544455.5:c.5216_5217insAA	ENSP00000439902.1:p.Tyr1739Ter
ENST00000614259.1:n.5216_5217insAA
NM_000059.3:c.5216_5217insAA , LRG_293t1:c.5216_5217insAA	NP_000050.2:p.Tyr1739Ter
XM_011535203.1:c.5216_5217insAA	XP_011533505.1:p.Tyr1739Ter
XM_011535204.1:c.5216_5217insAA	XP_011533506.1:p.Tyr1739Ter
XM_011535205.1:c.5216_5217insAA	XP_011533507.1:p.Tyr1739Ter
NM_000059.4:c.5216_5217insAA MANE Select	NP_000050.3:p.Tyr1739Ter