Canonical Allele Identifier: CA1139663108

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 926187
• ClinVar RCV Id: RCV001188587 ; RCV001862982
• dbSNP Id: rs276174819
• gnomAD v4: 13-32336524-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32336530del , CM000675.2:g.32336530del	GRCh38
NC_000013.10:g.32910667del , CM000675.1:g.32910667del	GRCh37
NC_000013.9:g.31808667del	NCBI36
NG_012772.3:g.26051del , LRG_293:g.26051del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2175del	ENSP00000434898.2:p.Val726PhefsTer4
ENST00000528762.2:c.2175del	ENSP00000433168.2:p.Val726PhefsTer4
ENST00000530893.7:c.1806del	ENSP00000499438.2:p.Val603PhefsTer4
ENST00000665585.2:c.2175del	ENSP00000499570.2:p.Val726PhefsTer4
ENST00000666593.2:c.2175del	ENSP00000499256.2:p.Val726PhefsTer4
ENST00000700202.2:c.2175del	ENSP00000514856.2:p.Val726PhefsTer4
ENST00000380152.8:c.2175del MANE Select	ENSP00000369497.3:p.Val726PhefsTer4
ENST00000544455.6:c.2175del	ENSP00000439902.1:p.Val726PhefsTer4
ENST00000614259.2:c.2175del	ENSP00000506251.1:p.Val726PhefsTer4
ENST00000680887.1:c.2175del	ENSP00000505508.1:p.Val726PhefsTer4
ENST00000380152.7:c.2175del	ENSP00000369497.3:p.Val726PhefsTer4
ENST00000544455.5:c.2175del	ENSP00000439902.1:p.Val726PhefsTer4
ENST00000614259.1:n.2175del
NM_000059.3:c.2175del , LRG_293t1:c.2175del	NP_000050.2:p.Val726PhefsTer4
XM_011535203.1:c.2175del	XP_011533505.1:p.Val726PhefsTer4
XM_011535204.1:c.2175del	XP_011533506.1:p.Val726PhefsTer4
XM_011535205.1:c.2175del	XP_011533507.1:p.Val726PhefsTer4
NM_000059.4:c.2175del MANE Select	NP_000050.3:p.Val726PhefsTer4