Canonical Allele Identifier: CA2695217953

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379460_32379466dup , CM000675.2:g.32379460_32379466dup	GRCh38
NC_000013.10:g.32953597_32953603dup , CM000675.1:g.32953597_32953603dup	GRCh37
NC_000013.9:g.31851597_31851603dup	NCBI36
NG_012772.3:g.68981_68987dup , LRG_293:g.68981_68987dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8898_8904dup	ENSP00000434898.2:p.Val2969HisfsTer?
ENST00000528762.2:c.*265_*271dup	ENSP00000433168.2:n.*265_*271dup
ENST00000530893.7:c.8529_8535dup	ENSP00000499438.2:p.Val2846HisfsTer?
ENST00000665585.2:c.*460_*466dup	ENSP00000499570.2:n.*460_*466dup
ENST00000666593.2:c.8898_8904dup	ENSP00000499256.2:p.Val2969HisfsTer?
ENST00000700202.2:c.8898_8904dup	ENSP00000514856.2:p.Val2969HisfsTer?
ENST00000700202.1:c.1365_1371dup	ENSP00000514856.1:p.Val458HisfsTer?
ENST00000700203.1:n.1025_1031dup
ENST00000380152.8:c.8898_8904dup MANE Select	ENSP00000369497.3:p.Val2969HisfsTer?
ENST00000544455.6:c.8898_8904dup	ENSP00000439902.1:p.Val2969HisfsTer?
ENST00000614259.2:c.8906_8912dup	ENSP00000506251.1:n.8906_8912dup
ENST00000665585.1:c.1776_1782dup
ENST00000680887.1:c.8898_8904dup	ENSP00000505508.1:p.Val2969HisfsTer?
ENST00000380152.7:c.8898_8904dup	ENSP00000369497.3:p.Val2969HisfsTer?
ENST00000528762.1:c.460_466dup	ENSP00000433168.1:n.460_466dup
ENST00000544455.5:c.8898_8904dup	ENSP00000439902.1:p.Val2969HisfsTer?
NM_000059.3:c.8898_8904dup , LRG_293t1:c.8898_8904dup	NP_000050.2:p.Val2969HisfsTer?
XM_011535203.1:c.8898_8904dup	XP_011533505.1:p.Val2969HisfsTer?
XM_011535204.1:c.8802_8808dup	XP_011533506.1:p.Val2937HisfsTer?
XM_011535205.1:c.8755-290_8755-284dup	XP_011533507.1:n.8755-290_8755-284dup
NM_000059.4:c.8898_8904dup MANE Select	NP_000050.3:p.Val2969HisfsTer?