Canonical Allele Identifier: CA913188571

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 923637
• ClinVar RCV Id: RCV001184464
• dbSNP Id: rs2072501463

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338672_32338682del , CM000675.2:g.32338672_32338682del	GRCh38
NC_000013.10:g.32912809_32912819del , CM000675.1:g.32912809_32912819del	GRCh37
NC_000013.9:g.31810809_31810819del	NCBI36
NG_012772.3:g.28193_28203del , LRG_293:g.28193_28203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.4317_4327del	ENSP00000434898.2:p.Lys1440Ter
ENST00000528762.2:c.4317_4327del	ENSP00000433168.2:p.Lys1440Ter
ENST00000530893.7:c.3948_3958del	ENSP00000499438.2:p.Lys1317Ter
ENST00000665585.2:c.4317_4327del	ENSP00000499570.2:p.Lys1440Ter
ENST00000666593.2:c.4317_4327del	ENSP00000499256.2:p.Lys1440Ter
ENST00000700202.2:c.4317_4327del	ENSP00000514856.2:p.Lys1440Ter
ENST00000380152.8:c.4317_4327del MANE Select	ENSP00000369497.3:p.Lys1440Ter
ENST00000544455.6:c.4317_4327del	ENSP00000439902.1:p.Lys1440Ter
ENST00000614259.2:c.4317_4327del	ENSP00000506251.1:p.Lys1440Ter
ENST00000680887.1:c.4317_4327del	ENSP00000505508.1:p.Lys1440Ter
ENST00000380152.7:c.4317_4327del	ENSP00000369497.3:p.Lys1440Ter
ENST00000544455.5:c.4317_4327del	ENSP00000439902.1:p.Lys1440Ter
ENST00000614259.1:n.4317_4327del
NM_000059.3:c.4317_4327del , LRG_293t1:c.4317_4327del	NP_000050.2:p.Lys1440Ter
XM_011535203.1:c.4317_4327del	XP_011533505.1:p.Lys1440Ter
XM_011535204.1:c.4317_4327del	XP_011533506.1:p.Lys1440Ter
XM_011535205.1:c.4317_4327del	XP_011533507.1:p.Lys1440Ter
NM_000059.4:c.4317_4327del MANE Select	NP_000050.3:p.Lys1440Ter