Canonical Allele Identifier: CA2499222096

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1075878
• ClinVar RCV Id: RCV001389578
• dbSNP Id: rs2137481744
• gnomAD v4: 13-32336265-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32336268del , CM000675.2:g.32336268del	GRCh38
NC_000013.10:g.32910405del , CM000675.1:g.32910405del	GRCh37
NC_000013.9:g.31808405del	NCBI36
NG_012772.3:g.25789del , LRG_293:g.25789del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.1913del	ENSP00000434898.2:p.Leu638TyrfsTer6
ENST00000528762.2:c.1913del	ENSP00000433168.2:p.Leu638TyrfsTer6
ENST00000530893.7:c.1544del	ENSP00000499438.2:p.Leu515TyrfsTer6
ENST00000665585.2:c.1913del	ENSP00000499570.2:p.Leu638TyrfsTer6
ENST00000666593.2:c.1913del	ENSP00000499256.2:p.Leu638TyrfsTer6
ENST00000700202.2:c.1913del	ENSP00000514856.2:p.Leu638TyrfsTer6
ENST00000380152.8:c.1913del MANE Select	ENSP00000369497.3:p.Leu638TyrfsTer6
ENST00000544455.6:c.1913del	ENSP00000439902.1:p.Leu638TyrfsTer6
ENST00000614259.2:c.1913del	ENSP00000506251.1:p.Leu638TyrfsTer6
ENST00000680887.1:c.1913del	ENSP00000505508.1:p.Leu638TyrfsTer6
ENST00000380152.7:c.1913del	ENSP00000369497.3:p.Leu638TyrfsTer6
ENST00000544455.5:c.1913del	ENSP00000439902.1:p.Leu638TyrfsTer6
ENST00000614259.1:n.1913del
NM_000059.3:c.1913del , LRG_293t1:c.1913del	NP_000050.2:p.Leu638TyrfsTer6
XM_011535203.1:c.1913del	XP_011533505.1:p.Leu638TyrfsTer6
XM_011535204.1:c.1913del	XP_011533506.1:p.Leu638TyrfsTer6
XM_011535205.1:c.1913del	XP_011533507.1:p.Leu638TyrfsTer6
NM_000059.4:c.1913del MANE Select	NP_000050.3:p.Leu638TyrfsTer6