Canonical Allele Identifier: CA1139663161

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 967249
• ClinVar RCV Id: RCV001242113
• dbSNP Id: rs2072821629

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370503_32370509del , CM000675.2:g.32370503_32370509del	GRCh38
NC_000013.10:g.32944640_32944646del , CM000675.1:g.32944640_32944646del	GRCh37
NC_000013.9:g.31842640_31842646del	NCBI36
NG_012772.3:g.60024_60030del , LRG_293:g.60024_60030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8433_8439del	ENSP00000434898.2:p.Asp2811GlufsTer8
ENST00000528762.2:c.8433_8439del	ENSP00000433168.2:p.Asp2811GlufsTer8
ENST00000530893.7:c.8064_8070del	ENSP00000499438.2:p.Asp2688GlufsTer8
ENST00000665585.2:c.8433_8439del	ENSP00000499570.2:p.Asp2811GlufsTer8
ENST00000666593.2:c.8433_8439del	ENSP00000499256.2:p.Asp2811GlufsTer8
ENST00000700202.2:c.8433_8439del	ENSP00000514856.2:p.Asp2811GlufsTer8
ENST00000700202.1:c.900_906del	ENSP00000514856.1:p.Asp300GlufsTer8
ENST00000380152.8:c.8433_8439del MANE Select	ENSP00000369497.3:p.Asp2811GlufsTer8
ENST00000544455.6:c.8433_8439del	ENSP00000439902.1:p.Asp2811GlufsTer8
ENST00000614259.2:c.8441_8447del	ENSP00000506251.1:n.8441_8447del
ENST00000665585.1:c.998_1004del
ENST00000680887.1:c.8433_8439del	ENSP00000505508.1:p.Asp2811GlufsTer8
ENST00000380152.7:c.8433_8439del	ENSP00000369497.3:p.Asp2811GlufsTer8
ENST00000544455.5:c.8433_8439del	ENSP00000439902.1:p.Asp2811GlufsTer8
NM_000059.3:c.8433_8439del , LRG_293t1:c.8433_8439del	NP_000050.2:p.Asp2811GlufsTer8
XM_011535203.1:c.8433_8439del	XP_011533505.1:p.Asp2811GlufsTer8
XM_011535204.1:c.8337_8343del	XP_011533506.1:p.Asp2779GlufsTer8
XM_011535205.1:c.8433_8439del	XP_011533507.1:p.Asp2811GlufsTer8
NM_000059.4:c.8433_8439del MANE Select	NP_000050.3:p.Asp2811GlufsTer8