Canonical Allele Identifier: CA018693

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 37856
• ClinVar RCV Id: RCV000031437 ; RCV000044254 ; RCV000131096 ; RCV000485903 ; RCV001002405 ; RCV001310146 ; RCV002496480 ; RCV003460507
• dbSNP Id: rs80359403
• gnomAD v2: 13-32912233-TAGTG-T
• gnomAD v3: 13-32338096-TAGTG-T
• gnomAD v4: 13-32338096-TAGTG-T
• MyVariant Identifiers: chr13:g.32912236_32912239del (hg19) ; chr13:g.32912234_32912237del (hg19) ; chr13:g.32338099_32338102del (hg38) ; chr13:g.32338097_32338100del (hg38)
• PubMed: PMID:11802209 ; PMID:15024741 ; PMID:16455195 ; PMID:17851763 ; PMID:19656164 ; PMID:22217648 ; PMID:22798144 ; PMID:25007954 ; PMID:25863477 ; PMID:26295337 ; PMID:26306726 ; PMID:26709275 ; PMID:28049253

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338099_32338102del , CM000675.2:g.32338099_32338102del	GRCh38
NC_000013.10:g.32912236_32912239del , CM000675.1:g.32912236_32912239del	GRCh37
NC_000013.9:g.31810236_31810239del	NCBI36
NG_012772.3:g.27620_27623del , LRG_293:g.27620_27623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3744_3747del	ENSP00000434898.2:p.Ser1248ArgfsTer10
ENST00000528762.2:c.3744_3747del	ENSP00000433168.2:p.Ser1248ArgfsTer10
ENST00000530893.7:c.3375_3378del	ENSP00000499438.2:p.Ser1125ArgfsTer10
ENST00000665585.2:c.3744_3747del	ENSP00000499570.2:p.Ser1248ArgfsTer10
ENST00000666593.2:c.3744_3747del	ENSP00000499256.2:p.Ser1248ArgfsTer10
ENST00000700202.2:c.3744_3747del	ENSP00000514856.2:p.Ser1248ArgfsTer10
ENST00000380152.8:c.3744_3747del MANE Select	ENSP00000369497.3:p.Ser1248ArgfsTer10
ENST00000544455.6:c.3744_3747del	ENSP00000439902.1:p.Ser1248ArgfsTer10
ENST00000614259.2:c.3744_3747del	ENSP00000506251.1:p.Ser1248ArgfsTer10
ENST00000680887.1:c.3744_3747del	ENSP00000505508.1:p.Ser1248ArgfsTer10
ENST00000380152.7:c.3744_3747del	ENSP00000369497.3:p.Ser1248ArgfsTer10
ENST00000544455.5:c.3744_3747del	ENSP00000439902.1:p.Ser1248ArgfsTer10
ENST00000614259.1:n.3744_3747del
NM_000059.3:c.3744_3747del , LRG_293t1:c.3744_3747del	NP_000050.2:p.Ser1248ArgfsTer10
XM_011535203.1:c.3744_3747del	XP_011533505.1:p.Ser1248ArgfsTer10
XM_011535204.1:c.3744_3747del	XP_011533506.1:p.Ser1248ArgfsTer10
XM_011535205.1:c.3744_3747del	XP_011533507.1:p.Ser1248ArgfsTer10
NM_000059.4:c.3744_3747del MANE Select	NP_000050.3:p.Ser1248ArgfsTer10