Canonical Allele Identifier: CA025913

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52720
• ClinVar RCV Id: RCV000114027
• dbSNP Id: rs80359737
• MyVariant Identifiers: chr13:g.32953913_32953916del (hg19) ; chr13:g.32379776_32379779del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379776_32379779del , CM000675.2:g.32379776_32379779del	GRCh38
NC_000013.10:g.32953913_32953916del , CM000675.1:g.32953913_32953916del	GRCh37
NC_000013.9:g.31851913_31851916del	NCBI36
NG_012772.3:g.69297_69300del , LRG_293:g.69297_69300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8980_8983del	ENSP00000434898.2:p.Ser2994IlefsTer6
ENST00000528762.2:c.*347_*350del	ENSP00000433168.2:n.*347_*350del
ENST00000530893.7:c.8611_8614del	ENSP00000499438.2:p.Ser2871IlefsTer6
ENST00000665585.2:c.*542_*545del	ENSP00000499570.2:n.*542_*545del
ENST00000666593.2:c.8980_8983del	ENSP00000499256.2:p.Ser2994IlefsTer6
ENST00000700202.2:c.8954-25_8954-22del	ENSP00000514856.2:n.8954-25_8954-22del
ENST00000700202.1:c.1421-25_1421-22del	ENSP00000514856.1:n.1421-25_1421-22del
ENST00000700203.1:n.1107_1110del
ENST00000380152.8:c.8980_8983del MANE Select	ENSP00000369497.3:p.Ser2994IlefsTer6
ENST00000544455.6:c.8980_8983del	ENSP00000439902.1:p.Ser2994IlefsTer6
ENST00000614259.2:c.8988_8991del	ENSP00000506251.1:n.8988_8991del
ENST00000665585.1:c.1858_1861del
ENST00000680887.1:c.8980_8983del	ENSP00000505508.1:p.Ser2994IlefsTer6
ENST00000380152.7:c.8980_8983del	ENSP00000369497.3:p.Ser2994IlefsTer6
ENST00000544455.5:c.8980_8983del	ENSP00000439902.1:p.Ser2994IlefsTer6
NM_000059.3:c.8980_8983del , LRG_293t1:c.8980_8983del	NP_000050.2:p.Ser2994IlefsTer6
XM_011535203.1:c.8980_8983del	XP_011533505.1:p.Ser2994IlefsTer6
XM_011535204.1:c.8884_8887del	XP_011533506.1:p.Ser2962IlefsTer6
XM_011535205.1:c.*18_*21del	XP_011533507.1:n.*18_*21del
NM_000059.4:c.8980_8983del MANE Select	NP_000050.3:p.Ser2994IlefsTer6