Canonical Allele Identifier: CA2622599002

Gene: BRCA2

Linked Data

• gnomAD v4: 13-32318940-TTTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32318946_32318949del , CM000675.2:g.32318946_32318949del	GRCh38
NC_000013.10:g.32893083_32893086del , CM000675.1:g.32893083_32893086del	GRCh37
NC_000013.9:g.31791083_31791086del	NCBI36
NG_012772.3:g.8467_8470del , LRG_293:g.8467_8470del
NG_017006.2:g.1420_1423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.68-131_68-128del	ENSP00000434898.2:n.68-131_68-128del
ENST00000528762.2:c.68-131_68-128del	ENSP00000433168.2:n.68-131_68-128del
ENST00000530893.7:c.-302-131_-302-128del	ENSP00000499438.2:n.-302-131_-302-128del
ENST00000665585.2:c.68-131_68-128del	ENSP00000499570.2:n.68-131_68-128del
ENST00000666593.2:c.68-131_68-128del	ENSP00000499256.2:n.68-131_68-128del
ENST00000700202.2:c.68-131_68-128del	ENSP00000514856.2:n.68-131_68-128del
ENST00000700200.1:n.191+2419_191+2422del
ENST00000700201.1:c.68-131_68-128del	ENSP00000514855.1:n.68-131_68-128del
ENST00000380152.8:c.68-131_68-128del MANE Select	ENSP00000369497.3:n.68-131_68-128del
ENST00000544455.6:c.68-131_68-128del	ENSP00000439902.1:n.68-131_68-128del
ENST00000614259.2:c.68-131_68-128del	ENSP00000506251.1:n.68-131_68-128del
ENST00000680887.1:c.68-131_68-128del	ENSP00000505508.1:n.68-131_68-128del
ENST00000380152.7:c.68-131_68-128del	ENSP00000369497.3:n.68-131_68-128del
ENST00000530893.6:n.266-131_266-128del
ENST00000544455.5:c.68-131_68-128del	ENSP00000439902.1:n.68-131_68-128del
ENST00000614259.1:n.68-131_68-128del
NM_000059.3:c.68-131_68-128del , LRG_293t1:c.68-131_68-128del	NP_000050.2:n.68-131_68-128del
XM_011535203.1:c.68-131_68-128del	XP_011533505.1:n.68-131_68-128del
XM_011535204.1:c.68-131_68-128del	XP_011533506.1:n.68-131_68-128del
XM_011535205.1:c.68-131_68-128del	XP_011533507.1:n.68-131_68-128del
NM_000059.4:c.68-131_68-128del MANE Select	NP_000050.3:n.68-131_68-128del