Canonical Allele Identifier: CA915948485

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 654783
• ClinVar RCV Id: RCV000810809
• dbSNP Id: rs1593904758

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339564_32339628dup , CM000675.2:g.32339564_32339628dup	GRCh38
NC_000013.10:g.32913701_32913765dup , CM000675.1:g.32913701_32913765dup	GRCh37
NC_000013.9:g.31811701_31811765dup	NCBI36
NG_012772.3:g.29085_29149dup , LRG_293:g.29085_29149dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.5209_5273dup	ENSP00000434898.2:p.Asn1758LysfsTer5
ENST00000528762.2:c.5209_5273dup	ENSP00000433168.2:p.Asn1758LysfsTer5
ENST00000530893.7:c.4840_4904dup	ENSP00000499438.2:p.Asn1635LysfsTer5
ENST00000665585.2:c.5209_5273dup	ENSP00000499570.2:p.Asn1758LysfsTer5
ENST00000666593.2:c.5209_5273dup	ENSP00000499256.2:p.Asn1758LysfsTer5
ENST00000700202.2:c.5209_5273dup	ENSP00000514856.2:p.Asn1758LysfsTer5
ENST00000380152.8:c.5209_5273dup MANE Select	ENSP00000369497.3:p.Asn1758LysfsTer5
ENST00000544455.6:c.5209_5273dup	ENSP00000439902.1:p.Asn1758LysfsTer5
ENST00000614259.2:c.5209_5273dup	ENSP00000506251.1:p.Asn1758LysfsTer5
ENST00000680887.1:c.5209_5273dup	ENSP00000505508.1:p.Asn1758LysfsTer5
ENST00000380152.7:c.5209_5273dup	ENSP00000369497.3:p.Asn1758LysfsTer5
ENST00000544455.5:c.5209_5273dup	ENSP00000439902.1:p.Asn1758LysfsTer5
ENST00000614259.1:n.5209_5273dup
NM_000059.3:c.5209_5273dup , LRG_293t1:c.5209_5273dup	NP_000050.2:p.Asn1758LysfsTer5
XM_011535203.1:c.5209_5273dup	XP_011533505.1:p.Asn1758LysfsTer5
XM_011535204.1:c.5209_5273dup	XP_011533506.1:p.Asn1758LysfsTer5
XM_011535205.1:c.5209_5273dup	XP_011533507.1:p.Asn1758LysfsTer5
NM_000059.4:c.5209_5273dup MANE Select	NP_000050.3:p.Asn1758LysfsTer5