Canonical Allele Identifier: CA1139663160

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 958127
• ClinVar RCV Id: RCV001231236
• dbSNP Id: rs2072676802

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32354897_32354902del , CM000675.2:g.32354897_32354902del	GRCh38
NC_000013.10:g.32929034_32929039del , CM000675.1:g.32929034_32929039del	GRCh37
NC_000013.9:g.31827034_31827039del	NCBI36
NG_012772.3:g.44418_44423del , LRG_293:g.44418_44423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7044_7049del	ENSP00000434898.2:p.Phe2349_Thr2350del
ENST00000528762.2:c.7044_7049del	ENSP00000433168.2:p.Phe2349_Thr2350del
ENST00000530893.7:c.6675_6680del	ENSP00000499438.2:p.Phe2226_Thr2227del
ENST00000665585.2:c.7044_7049del	ENSP00000499570.2:p.Phe2349_Thr2350del
ENST00000666593.2:c.7044_7049del	ENSP00000499256.2:p.Phe2349_Thr2350del
ENST00000700202.2:c.7044_7049del	ENSP00000514856.2:p.Phe2349_Thr2350del
ENST00000380152.8:c.7044_7049del MANE Select	ENSP00000369497.3:p.Phe2349_Thr2350del
ENST00000544455.6:c.7044_7049del	ENSP00000439902.1:p.Phe2349_Thr2350del
ENST00000614259.2:c.7044_7049del	ENSP00000506251.1:p.Phe2349_Thr2350del
ENST00000680887.1:c.7044_7049del	ENSP00000505508.1:p.Phe2349_Thr2350del
ENST00000380152.7:c.7044_7049del	ENSP00000369497.3:p.Phe2349_Thr2350del
ENST00000544455.5:c.7044_7049del	ENSP00000439902.1:p.Phe2349_Thr2350del
ENST00000614259.1:n.7044_7049del
NM_000059.3:c.7044_7049del , LRG_293t1:c.7044_7049del	NP_000050.2:p.Phe2349_Thr2350del
XM_011535203.1:c.7044_7049del	XP_011533505.1:p.Phe2349_Thr2350del
XM_011535204.1:c.6948_6953del	XP_011533506.1:p.Phe2317_Thr2318del
XM_011535205.1:c.7044_7049del	XP_011533507.1:p.Phe2349_Thr2350del
NM_000059.4:c.7044_7049del MANE Select	NP_000050.3:p.Phe2349_Thr2350del