Canonical Allele Identifier: CA016222

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 189178
• ClinVar RCV Id: RCV000169607 ; RCV000239268 ; RCV000496389 ; RCV000759592 ; RCV002433727
• dbSNP Id: rs786204752
• ExAC: 13:32911228 AGACTT / A
• gnomAD v2: 13-32911228-AGACTT-A
• gnomAD v3: 13-32337091-AGACTT-A
• gnomAD v4: 13-32337091-AGACTT-A
• MyVariant Identifiers: chr13:g.32911235_32911239del (hg19) ; chr13:g.32911229_32911233del (hg19) ; chr13:g.32337098_32337102del (hg38) ; chr13:g.32337092_32337096del (hg38)
• PubMed: PMID:24156927

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337098_32337102del , CM000675.2:g.32337098_32337102del	GRCh38
NC_000013.10:g.32911235_32911239del , CM000675.1:g.32911235_32911239del	GRCh37
NC_000013.9:g.31809235_31809239del	NCBI36
NG_012772.3:g.26619_26623del , LRG_293:g.26619_26623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2743_2747del	ENSP00000434898.2:p.Thr915CysfsTer19
ENST00000528762.2:c.2743_2747del	ENSP00000433168.2:p.Thr915CysfsTer19
ENST00000530893.7:c.2374_2378del	ENSP00000499438.2:p.Thr792CysfsTer19
ENST00000665585.2:c.2743_2747del	ENSP00000499570.2:p.Thr915CysfsTer19
ENST00000666593.2:c.2743_2747del	ENSP00000499256.2:p.Thr915CysfsTer19
ENST00000700202.2:c.2743_2747del	ENSP00000514856.2:p.Thr915CysfsTer19
ENST00000380152.8:c.2743_2747del MANE Select	ENSP00000369497.3:p.Thr915CysfsTer19
ENST00000544455.6:c.2743_2747del	ENSP00000439902.1:p.Thr915CysfsTer19
ENST00000614259.2:c.2743_2747del	ENSP00000506251.1:p.Thr915CysfsTer19
ENST00000680887.1:c.2743_2747del	ENSP00000505508.1:p.Thr915CysfsTer19
ENST00000380152.7:c.2743_2747del	ENSP00000369497.3:p.Thr915CysfsTer19
ENST00000544455.5:c.2743_2747del	ENSP00000439902.1:p.Thr915CysfsTer19
ENST00000614259.1:n.2743_2747del
NM_000059.3:c.2743_2747del , LRG_293t1:c.2743_2747del	NP_000050.2:p.Thr915CysfsTer19
XM_011535203.1:c.2743_2747del	XP_011533505.1:p.Thr915CysfsTer19
XM_011535204.1:c.2743_2747del	XP_011533506.1:p.Thr915CysfsTer19
XM_011535205.1:c.2743_2747del	XP_011533507.1:p.Thr915CysfsTer19
NM_000059.4:c.2743_2747del MANE Select	NP_000050.3:p.Thr915CysfsTer19