Canonical Allele Identifier: CA2573149393

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1396370
• ClinVar RCV Id: RCV001902966
• dbSNP Id: rs2137562615

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32356520_32356521delinsAC , CM000675.2:g.32356520_32356521delinsAC	GRCh38
NC_000013.10:g.32930657_32930658delinsAC , CM000675.1:g.32930657_32930658delinsAC	GRCh37
NC_000013.9:g.31828657_31828658delinsAC	NCBI36
NG_012772.3:g.46041_46042delinsAC , LRG_293:g.46041_46042delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7528_7529delinsAC	ENSP00000434898.2:p.Leu2510Thr
ENST00000528762.2:c.7528_7529delinsAC	ENSP00000433168.2:p.Leu2510Thr
ENST00000530893.7:c.7159_7160delinsAC	ENSP00000499438.2:p.Leu2387Thr
ENST00000665585.2:c.7528_7529delinsAC	ENSP00000499570.2:p.Leu2510Thr
ENST00000666593.2:c.7528_7529delinsAC	ENSP00000499256.2:p.Leu2510Thr
ENST00000700202.2:c.7528_7529delinsAC	ENSP00000514856.2:p.Leu2510Thr
ENST00000380152.8:c.7528_7529delinsAC MANE Select	ENSP00000369497.3:p.Leu2510Thr
ENST00000544455.6:c.7528_7529delinsAC	ENSP00000439902.1:p.Leu2510Thr
ENST00000614259.2:c.7528_7529delinsAC	ENSP00000506251.1:p.Leu2510Thr
ENST00000665585.1:c.93_94delinsAC
ENST00000680887.1:c.7528_7529delinsAC	ENSP00000505508.1:p.Leu2510Thr
ENST00000380152.7:c.7528_7529delinsAC	ENSP00000369497.3:p.Leu2510Thr
ENST00000544455.5:c.7528_7529delinsAC	ENSP00000439902.1:p.Leu2510Thr
ENST00000614259.1:n.7528_7529delinsAC
NM_000059.3:c.7528_7529delinsAC , LRG_293t1:c.7528_7529delinsAC	NP_000050.2:p.Leu2510Thr
XM_011535203.1:c.7528_7529delinsAC	XP_011533505.1:p.Leu2510Thr
XM_011535204.1:c.7432_7433delinsAC	XP_011533506.1:p.Leu2478Thr
XM_011535205.1:c.7528_7529delinsAC	XP_011533507.1:p.Leu2510Thr
NM_000059.4:c.7528_7529delinsAC MANE Select	NP_000050.3:p.Leu2510Thr