Canonical Allele Identifier: CA2499222307

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1073236
• ClinVar RCV Id: RCV001386187
• dbSNP Id: rs2137567568

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32357892_32357893dup , CM000675.2:g.32357892_32357893dup	GRCh38
NC_000013.10:g.32932029_32932030dup , CM000675.1:g.32932029_32932030dup	GRCh37
NC_000013.9:g.31830029_31830030dup	NCBI36
NG_012772.3:g.47413_47414dup , LRG_293:g.47413_47414dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7768_7769dup	ENSP00000434898.2:p.Asn2591ProfsTer?
ENST00000528762.2:c.7768_7769dup	ENSP00000433168.2:p.Asn2591ProfsTer?
ENST00000530893.7:c.7399_7400dup	ENSP00000499438.2:p.Asn2468ProfsTer?
ENST00000665585.2:c.7768_7769dup	ENSP00000499570.2:p.Asn2591ProfsTer?
ENST00000666593.2:c.7768_7769dup	ENSP00000499256.2:p.Asn2591ProfsTer?
ENST00000700202.2:c.7768_7769dup	ENSP00000514856.2:p.Asn2591ProfsTer?
ENST00000700202.1:c.235_236dup	ENSP00000514856.1:p.Asn80ProfsTer?
ENST00000380152.8:c.7768_7769dup MANE Select	ENSP00000369497.3:p.Asn2591ProfsTer?
ENST00000544455.6:c.7768_7769dup	ENSP00000439902.1:p.Asn2591ProfsTer?
ENST00000614259.2:c.7768_7769dup	ENSP00000506251.1:p.Asn2591ProfsTer19
ENST00000665585.1:c.333_334dup
ENST00000680887.1:c.7768_7769dup	ENSP00000505508.1:p.Asn2591ProfsTer?
ENST00000380152.7:c.7768_7769dup	ENSP00000369497.3:p.Asn2591ProfsTer?
ENST00000544455.5:c.7768_7769dup	ENSP00000439902.1:p.Asn2591ProfsTer?
ENST00000614259.1:n.7768_7769dup
NM_000059.3:c.7768_7769dup , LRG_293t1:c.7768_7769dup	NP_000050.2:p.Asn2591ProfsTer?
XM_011535203.1:c.7768_7769dup	XP_011533505.1:p.Asn2591ProfsTer?
XM_011535204.1:c.7672_7673dup	XP_011533506.1:p.Asn2559ProfsTer?
XM_011535205.1:c.7768_7769dup	XP_011533507.1:p.Asn2591ProfsTer?
NM_000059.4:c.7768_7769dup MANE Select	NP_000050.3:p.Asn2591ProfsTer?