Canonical Allele Identifier: CA954688327

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1116498
• ClinVar RCV Id: RCV001444904
• dbSNP Id: rs2072262638
• gnomAD v3: 13-32316541-TTA-T
• gnomAD v4: 13-32316541-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316546_32316547del , CM000675.2:g.32316546_32316547del	GRCh38
NC_000013.10:g.32890683_32890684del , CM000675.1:g.32890683_32890684del	GRCh37
NC_000013.9:g.31788683_31788684del	NCBI36
NG_012772.3:g.6067_6068del , LRG_293:g.6067_6068del
NG_017006.1:g.412_413del
NG_017006.2:g.3821_3822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.67+19_67+20del	ENSP00000434898.2:n.67+19_67+20del
ENST00000528762.2:c.67+19_67+20del	ENSP00000433168.2:n.67+19_67+20del
ENST00000530893.7:c.-303+23_-303+24del	ENSP00000499438.2:n.-303+23_-303+24del
ENST00000665585.2:c.67+19_67+20del	ENSP00000499570.2:n.67+19_67+20del
ENST00000666593.2:c.67+19_67+20del	ENSP00000499256.2:n.67+19_67+20del
ENST00000700202.2:c.67+19_67+20del	ENSP00000514856.2:n.67+19_67+20del
ENST00000700199.1:n.210_211del
ENST00000700200.1:n.191+19_191+20del
ENST00000700201.1:c.67+19_67+20del	ENSP00000514855.1:n.67+19_67+20del
ENST00000380152.8:c.67+19_67+20del MANE Select	ENSP00000369497.3:n.67+19_67+20del
ENST00000544455.6:c.67+19_67+20del	ENSP00000439902.1:n.67+19_67+20del
ENST00000614259.2:c.67+19_67+20del	ENSP00000506251.1:n.67+19_67+20del
ENST00000680887.1:c.67+19_67+20del	ENSP00000505508.1:n.67+19_67+20del
ENST00000380152.7:c.67+19_67+20del	ENSP00000369497.3:n.67+19_67+20del
ENST00000530893.6:n.265+23_265+24del
ENST00000544455.5:c.67+19_67+20del	ENSP00000439902.1:n.67+19_67+20del
ENST00000614259.1:n.67+19_67+20del
NM_000059.3:c.67+19_67+20del , LRG_293t1:c.67+19_67+20del	NP_000050.2:n.67+19_67+20del
XM_011535203.1:c.67+19_67+20del	XP_011533505.1:n.67+19_67+20del
XM_011535204.1:c.67+19_67+20del	XP_011533506.1:n.67+19_67+20del
XM_011535205.1:c.67+19_67+20del	XP_011533507.1:n.67+19_67+20del
NM_000059.4:c.67+19_67+20del MANE Select	NP_000050.3:n.67+19_67+20del