Canonical Allele Identifier: CA697325016

Gene: BRCA2

Linked Data

• dbSNP Id: rs1462114439
• gnomAD v3: 13-32316817-GTT-G
• gnomAD v4: 13-32316817-GTT-G
• MyVariant Identifiers: chr13:g.32890955_32890956del (hg19) ; chr13:g.32316818_32316819del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316819_32316820del , CM000675.2:g.32316819_32316820del	GRCh38
NC_000013.10:g.32890956_32890957del , CM000675.1:g.32890956_32890957del	GRCh37
NC_000013.9:g.31788956_31788957del	NCBI36
NG_012772.3:g.6340_6341del , LRG_293:g.6340_6341del
NG_017006.1:g.136_137del
NG_017006.2:g.3545_3546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.67+292_67+293del	ENSP00000434898.2:n.67+292_67+293del
ENST00000528762.2:c.67+292_67+293del	ENSP00000433168.2:n.67+292_67+293del
ENST00000530893.7:c.-303+296_-303+297del	ENSP00000499438.2:n.-303+296_-303+297del
ENST00000665585.2:c.67+292_67+293del	ENSP00000499570.2:n.67+292_67+293del
ENST00000666593.2:c.67+292_67+293del	ENSP00000499256.2:n.67+292_67+293del
ENST00000700202.2:c.67+292_67+293del	ENSP00000514856.2:n.67+292_67+293del
ENST00000700199.1:n.483_484del
ENST00000700200.1:n.191+292_191+293del
ENST00000700201.1:c.67+292_67+293del	ENSP00000514855.1:n.67+292_67+293del
ENST00000380152.8:c.67+292_67+293del MANE Select	ENSP00000369497.3:n.67+292_67+293del
ENST00000544455.6:c.67+292_67+293del	ENSP00000439902.1:n.67+292_67+293del
ENST00000614259.2:c.67+292_67+293del	ENSP00000506251.1:n.67+292_67+293del
ENST00000680887.1:c.67+292_67+293del	ENSP00000505508.1:n.67+292_67+293del
ENST00000380152.7:c.67+292_67+293del	ENSP00000369497.3:n.67+292_67+293del
ENST00000530893.6:n.265+296_265+297del
ENST00000544455.5:c.67+292_67+293del	ENSP00000439902.1:n.67+292_67+293del
ENST00000614259.1:n.67+292_67+293del
NM_000059.3:c.67+292_67+293del , LRG_293t1:c.67+292_67+293del	NP_000050.2:n.67+292_67+293del
XM_011535203.1:c.67+292_67+293del	XP_011533505.1:n.67+292_67+293del
XM_011535204.1:c.67+292_67+293del	XP_011533506.1:n.67+292_67+293del
XM_011535205.1:c.67+292_67+293del	XP_011533507.1:n.67+292_67+293del
NM_000059.4:c.67+292_67+293del MANE Select	NP_000050.3:n.67+292_67+293del