Canonical Allele Identifier: CA915946900

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 657888
• ClinVar RCV Id: RCV000814598 ; RCV002249524 ; RCV003478515 ; RCV004028818
• dbSNP Id: rs1593931201

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371050_32371052dup , CM000675.2:g.32371050_32371052dup	GRCh38
NC_000013.10:g.32945187_32945189dup , CM000675.1:g.32945187_32945189dup	GRCh37
NC_000013.9:g.31843187_31843189dup	NCBI36
NG_012772.3:g.60571_60573dup , LRG_293:g.60571_60573dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8582_8584dup	ENSP00000434898.2:p.Arg2861_Leu2862insArg
ENST00000528762.2:c.8582_8584dup	ENSP00000433168.2:p.Arg2861_Leu2862insArg
ENST00000530893.7:c.8213_8215dup	ENSP00000499438.2:p.Arg2738_Leu2739insArg
ENST00000665585.2:c.8582_8584dup	ENSP00000499570.2:p.Arg2861_Leu2862insArg
ENST00000666593.2:c.8582_8584dup	ENSP00000499256.2:p.Arg2861_Leu2862insArg
ENST00000700202.2:c.8582_8584dup	ENSP00000514856.2:p.Arg2861_Leu2862insArg
ENST00000700202.1:c.1049_1051dup	ENSP00000514856.1:p.Arg350_Leu351insArg
ENST00000380152.8:c.8582_8584dup MANE Select	ENSP00000369497.3:p.Arg2861_Leu2862insArg
ENST00000544455.6:c.8582_8584dup	ENSP00000439902.1:p.Arg2861_Leu2862insArg
ENST00000614259.2:c.8590_8592dup	ENSP00000506251.1:n.8590_8592dup
ENST00000665585.1:c.1147_1149dup
ENST00000680887.1:c.8582_8584dup	ENSP00000505508.1:p.Arg2861_Leu2862insArg
ENST00000380152.7:c.8582_8584dup	ENSP00000369497.3:p.Arg2861_Leu2862insArg
ENST00000528762.1:c.80_82dup	ENSP00000433168.1:p.Arg27_Leu28insArg
ENST00000544455.5:c.8582_8584dup	ENSP00000439902.1:p.Arg2861_Leu2862insArg
NM_000059.3:c.8582_8584dup , LRG_293t1:c.8582_8584dup	NP_000050.2:p.Arg2861_Leu2862insArg
XM_011535203.1:c.8582_8584dup	XP_011533505.1:p.Arg2861_Leu2862insArg
XM_011535204.1:c.8486_8488dup	XP_011533506.1:p.Arg2829_Leu2830insArg
XM_011535205.1:c.8582_8584dup	XP_011533507.1:p.Arg2861_Leu2862insArg
NM_000059.4:c.8582_8584dup MANE Select	NP_000050.3:p.Arg2861_Leu2862insArg