Canonical Allele Identifier: CA658823612

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 548432
• ClinVar RCV Id: RCV000661858
• dbSNP Id: rs1555288366
• MyVariant Identifiers: chr13:g.32953460_32953461del (hg19) ; chr13:g.32379323_32379324del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379323_32379324del , CM000675.2:g.32379323_32379324del	GRCh38
NC_000013.10:g.32953460_32953461del , CM000675.1:g.32953460_32953461del	GRCh37
NC_000013.9:g.31851460_31851461del	NCBI36
NG_012772.3:g.68844_68845del , LRG_293:g.68844_68845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8761_8762del	ENSP00000434898.2:p.Phe2921GlnfsTer2
ENST00000528762.2:c.*128_*129del	ENSP00000433168.2:n.*128_*129del
ENST00000530893.7:c.8392_8393del	ENSP00000499438.2:p.Phe2798GlnfsTer2
ENST00000665585.2:c.*323_*324del	ENSP00000499570.2:n.*323_*324del
ENST00000666593.2:c.8761_8762del	ENSP00000499256.2:p.Phe2921GlnfsTer2
ENST00000700202.2:c.8761_8762del	ENSP00000514856.2:p.Phe2921GlnfsTer2
ENST00000700202.1:c.1228_1229del	ENSP00000514856.1:p.Phe410GlnfsTer2
ENST00000700203.1:n.888_889del
ENST00000380152.8:c.8761_8762del MANE Select	ENSP00000369497.3:p.Phe2921GlnfsTer2
ENST00000544455.6:c.8761_8762del	ENSP00000439902.1:p.Phe2921GlnfsTer2
ENST00000614259.2:c.8769_8770del	ENSP00000506251.1:n.8769_8770del
ENST00000665585.1:c.1639_1640del
ENST00000680887.1:c.8761_8762del	ENSP00000505508.1:p.Phe2921GlnfsTer2
ENST00000380152.7:c.8761_8762del	ENSP00000369497.3:p.Phe2921GlnfsTer2
ENST00000528762.1:c.323_324del	ENSP00000433168.1:n.323_324del
ENST00000544455.5:c.8761_8762del	ENSP00000439902.1:p.Phe2921GlnfsTer2
NM_000059.3:c.8761_8762del , LRG_293t1:c.8761_8762del	NP_000050.2:p.Phe2921GlnfsTer2
XM_011535203.1:c.8761_8762del	XP_011533505.1:p.Phe2921GlnfsTer2
XM_011535204.1:c.8665_8666del	XP_011533506.1:p.Phe2889GlnfsTer2
XM_011535205.1:c.8755-427_8755-426del	XP_011533507.1:n.8755-427_8755-426del
NM_000059.4:c.8761_8762del MANE Select	NP_000050.3:p.Phe2921GlnfsTer2