Canonical Allele Identifier: CA2580087419

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1709863
• ClinVar RCV Id: RCV002290205

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362656_32362674del , CM000675.2:g.32362656_32362674del	GRCh38
NC_000013.10:g.32936793_32936811del , CM000675.1:g.32936793_32936811del	GRCh37
NC_000013.9:g.31834793_31834811del	NCBI36
NG_012772.3:g.52177_52195del , LRG_293:g.52177_52195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7939_7957del	ENSP00000434898.2:p.Leu2647PhefsTer4
ENST00000528762.2:c.7939_7957del	ENSP00000433168.2:p.Leu2647PhefsTer4
ENST00000530893.7:c.7570_7588del	ENSP00000499438.2:p.Leu2524PhefsTer4
ENST00000665585.2:c.7939_7957del	ENSP00000499570.2:p.Leu2647PhefsTer4
ENST00000666593.2:c.7939_7957del	ENSP00000499256.2:p.Leu2647PhefsTer4
ENST00000700202.2:c.7939_7957del	ENSP00000514856.2:p.Leu2647PhefsTer4
ENST00000700202.1:c.406_424del	ENSP00000514856.1:p.Leu136PhefsTer4
ENST00000380152.8:c.7939_7957del MANE Select	ENSP00000369497.3:p.Leu2647PhefsTer4
ENST00000544455.6:c.7939_7957del	ENSP00000439902.1:p.Leu2647PhefsTer4
ENST00000614259.2:c.7947_7965del	ENSP00000506251.1:n.[c.7947_7965del;Ter2650SerextTer8]
ENST00000665585.1:c.504_522del
ENST00000680887.1:c.7939_7957del	ENSP00000505508.1:p.Leu2647PhefsTer4
ENST00000380152.7:c.7939_7957del	ENSP00000369497.3:p.Leu2647PhefsTer4
ENST00000544455.5:c.7939_7957del	ENSP00000439902.1:p.Leu2647PhefsTer4
NM_000059.3:c.7939_7957del , LRG_293t1:c.7939_7957del	NP_000050.2:p.Leu2647PhefsTer4
XM_011535203.1:c.7939_7957del	XP_011533505.1:p.Leu2647PhefsTer4
XM_011535204.1:c.7843_7861del	XP_011533506.1:p.Leu2615PhefsTer4
XM_011535205.1:c.7939_7957del	XP_011533507.1:p.Leu2647PhefsTer4
NM_000059.4:c.7939_7957del MANE Select	NP_000050.3:p.Leu2647PhefsTer4