Canonical Allele Identifier: CA913190905

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 619802
• ClinVar RCV Id: RCV000759595 ; RCV002319574 ; RCV001343575
• dbSNP Id: rs1342774938

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337432_32337434del , CM000675.2:g.32337432_32337434del	GRCh38
NC_000013.10:g.32911569_32911571del , CM000675.1:g.32911569_32911571del	GRCh37
NC_000013.9:g.31809569_31809571del	NCBI36
NG_012772.3:g.26953_26955del , LRG_293:g.26953_26955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3077_3079del	ENSP00000434898.2:p.Lys1026del
ENST00000528762.2:c.3077_3079del	ENSP00000433168.2:p.Lys1026del
ENST00000530893.7:c.2708_2710del	ENSP00000499438.2:p.Lys903del
ENST00000665585.2:c.3077_3079del	ENSP00000499570.2:p.Lys1026del
ENST00000666593.2:c.3077_3079del	ENSP00000499256.2:p.Lys1026del
ENST00000700202.2:c.3077_3079del	ENSP00000514856.2:p.Lys1026del
ENST00000380152.8:c.3077_3079del MANE Select	ENSP00000369497.3:p.Lys1026del
ENST00000544455.6:c.3077_3079del	ENSP00000439902.1:p.Lys1026del
ENST00000614259.2:c.3077_3079del	ENSP00000506251.1:p.Lys1026del
ENST00000680887.1:c.3077_3079del	ENSP00000505508.1:p.Lys1026del
ENST00000380152.7:c.3077_3079del	ENSP00000369497.3:p.Lys1026del
ENST00000544455.5:c.3077_3079del	ENSP00000439902.1:p.Lys1026del
ENST00000614259.1:n.3077_3079del
NM_000059.3:c.3077_3079del , LRG_293t1:c.3077_3079del	NP_000050.2:p.Lys1026del
XM_011535203.1:c.3077_3079del	XP_011533505.1:p.Lys1026del
XM_011535204.1:c.3077_3079del	XP_011533506.1:p.Lys1026del
XM_011535205.1:c.3077_3079del	XP_011533507.1:p.Lys1026del
NM_000059.4:c.3077_3079del MANE Select	NP_000050.3:p.Lys1026del