Canonical Allele Identifier: CA2739277527

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2816675
• ClinVar RCV Id: RCV003645600

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380120_32380121insCAGGATTT , CM000675.2:g.32380120_32380121insCAGGATTT	GRCh38
NC_000013.10:g.32954257_32954258insCAGGATTT , CM000675.1:g.32954257_32954258insCAGGATTT	GRCh37
NC_000013.9:g.31852257_31852258insCAGGATTT	NCBI36
NG_012772.3:g.69641_69642insCAGGATTT , LRG_293:g.69641_69642insCAGGATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9231_9232insCAGGATTT	ENSP00000434898.2:p.Val3078GlnfsTer8
ENST00000528762.2:c.*598_*599insCAGGATTT	ENSP00000433168.2:n.*598_*599insCAGGATTT
ENST00000530893.7:c.8862_8863insCAGGATTT	ENSP00000499438.2:p.Val2955GlnfsTer8
ENST00000665585.2:c.*793_*794insCAGGATTT	ENSP00000499570.2:n.*793_*794insCAGGATTT
ENST00000666593.2:c.9231_9232insCAGGATTT	ENSP00000499256.2:p.Val3078GlnfsTer8
ENST00000700202.2:c.9180_9181insCAGGATTT	ENSP00000514856.2:p.Val3061GlnfsTer8
ENST00000700202.1:c.1647_1648insCAGGATTT	ENSP00000514856.1:p.Val550GlnfsTer8
ENST00000700203.1:n.1358_1359insCAGGATTT
ENST00000380152.8:c.9231_9232insCAGGATTT MANE Select	ENSP00000369497.3:p.Val3078GlnfsTer8
ENST00000544455.6:c.9231_9232insCAGGATTT	ENSP00000439902.1:p.Val3078GlnfsTer8
ENST00000614259.2:c.9239_9240insCAGGATTT	ENSP00000506251.1:n.9239_9240insCAGGATTT
ENST00000665585.1:c.2109_2110insCAGGATTT
ENST00000666593.1:c.114_115insCAGGATTT	ENSP00000499256.1:p.Val39GlnfsTer8
ENST00000680887.1:c.9231_9232insCAGGATTT	ENSP00000505508.1:p.Val3078GlnfsTer8
ENST00000380152.7:c.9231_9232insCAGGATTT	ENSP00000369497.3:p.Val3078GlnfsTer8
ENST00000470094.1:c.188_189insCAGGATTT
ENST00000544455.5:c.9231_9232insCAGGATTT	ENSP00000439902.1:p.Val3078GlnfsTer8
NM_000059.3:c.9231_9232insCAGGATTT , LRG_293t1:c.9231_9232insCAGGATTT	NP_000050.2:p.Val3078GlnfsTer8
XM_011535203.1:c.9231_9232insCAGGATTT	XP_011533505.1:p.Val3078GlnfsTer8
XM_011535204.1:c.9135_9136insCAGGATTT	XP_011533506.1:p.Val3046GlnfsTer8
NM_000059.4:c.9231_9232insCAGGATTT MANE Select	NP_000050.3:p.Val3078GlnfsTer8