Canonical Allele Identifier: CA2573149294

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1475423
• ClinVar RCV Id: RCV001976230 ; RCV002425359
• dbSNP Id: rs2138704899

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319223_32319225del , CM000675.2:g.32319223_32319225del	GRCh38
NC_000013.10:g.32893360_32893362del , CM000675.1:g.32893360_32893362del	GRCh37
NC_000013.9:g.31791360_31791362del	NCBI36
NG_012772.3:g.8744_8746del , LRG_293:g.8744_8746del
NG_017006.2:g.1141_1143del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.214_216del	ENSP00000434898.2:p.Asn72del
ENST00000528762.2:c.214_216del	ENSP00000433168.2:p.Asn72del
ENST00000530893.7:c.-156_-154del	ENSP00000499438.2:n.-156_-154del
ENST00000665585.2:c.214_216del	ENSP00000499570.2:p.Asn72del
ENST00000666593.2:c.214_216del	ENSP00000499256.2:p.Asn72del
ENST00000700202.2:c.214_216del	ENSP00000514856.2:p.Asn72del
ENST00000700200.1:n.191+2696_191+2698del
ENST00000700201.1:c.214_216del	ENSP00000514855.1:p.Asn72del
ENST00000380152.8:c.214_216del MANE Select	ENSP00000369497.3:p.Asn72del
ENST00000544455.6:c.214_216del	ENSP00000439902.1:p.Asn72del
ENST00000614259.2:c.214_216del	ENSP00000506251.1:p.Asn72del
ENST00000680887.1:c.214_216del	ENSP00000505508.1:p.Asn72del
ENST00000380152.7:c.214_216del	ENSP00000369497.3:p.Asn72del
ENST00000530893.6:n.412_414del
ENST00000544455.5:c.214_216del	ENSP00000439902.1:p.Asn72del
ENST00000614259.1:n.214_216del
NM_000059.3:c.214_216del , LRG_293t1:c.214_216del	NP_000050.2:p.Asn72del
XM_011535203.1:c.214_216del	XP_011533505.1:p.Asn72del
XM_011535204.1:c.214_216del	XP_011533506.1:p.Asn72del
XM_011535205.1:c.214_216del	XP_011533507.1:p.Asn72del
NM_000059.4:c.214_216del MANE Select	NP_000050.3:p.Asn72del