Canonical Allele Identifier: CA2570754056

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2864393
• ClinVar RCV Id: RCV003644697
• gnomAD v4: 13-32363155-ATGCATTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363157_32363163del , CM000675.2:g.32363157_32363163del	GRCh38
NC_000013.10:g.32937294_32937300del , CM000675.1:g.32937294_32937300del	GRCh37
NC_000013.9:g.31835294_31835300del	NCBI36
NG_012772.3:g.52678_52684del , LRG_293:g.52678_52684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7977-22_7977-16del	ENSP00000434898.2:n.7977-22_7977-16del
ENST00000528762.2:c.7977-22_7977-16del	ENSP00000433168.2:n.7977-22_7977-16del
ENST00000530893.7:c.7608-22_7608-16del	ENSP00000499438.2:n.7608-22_7608-16del
ENST00000665585.2:c.7977-22_7977-16del	ENSP00000499570.2:n.7977-22_7977-16del
ENST00000666593.2:c.7977-22_7977-16del	ENSP00000499256.2:n.7977-22_7977-16del
ENST00000700202.2:c.7977-22_7977-16del	ENSP00000514856.2:n.7977-22_7977-16del
ENST00000700202.1:c.444-22_444-16del	ENSP00000514856.1:n.444-22_444-16del
ENST00000380152.8:c.7977-22_7977-16del MANE Select	ENSP00000369497.3:n.7977-22_7977-16del
ENST00000544455.6:c.7977-22_7977-16del	ENSP00000439902.1:n.7977-22_7977-16del
ENST00000614259.2:c.7985-22_7985-16del	ENSP00000506251.1:n.7985-22_7985-16del
ENST00000665585.1:c.542-22_542-16del
ENST00000680887.1:c.7977-22_7977-16del	ENSP00000505508.1:n.7977-22_7977-16del
ENST00000380152.7:c.7977-22_7977-16del	ENSP00000369497.3:n.7977-22_7977-16del
ENST00000544455.5:c.7977-22_7977-16del	ENSP00000439902.1:n.7977-22_7977-16del
NM_000059.3:c.7977-22_7977-16del , LRG_293t1:c.7977-22_7977-16del	NP_000050.2:n.7977-22_7977-16del
XM_011535203.1:c.7977-22_7977-16del	XP_011533505.1:n.7977-22_7977-16del
XM_011535204.1:c.7881-22_7881-16del	XP_011533506.1:n.7881-22_7881-16del
XM_011535205.1:c.7977-22_7977-16del	XP_011533507.1:n.7977-22_7977-16del
NM_000059.4:c.7977-22_7977-16del MANE Select	NP_000050.3:n.7977-22_7977-16del