Canonical Allele Identifier: CA015907

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51318
• ClinVar RCV Id: RCV000113072 ; RCV000657806 ; RCV001047015 ; RCV002426594
• dbSNP Id: rs276174826
• gnomAD v4: 13-32336988-ACT-A
• MyVariant Identifiers: chr13:g.32911128_32911129del (hg19) ; chr13:g.32336991_32336992del (hg38)
• PubMed: PMID:18431501

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32336991_32336992del , CM000675.2:g.32336991_32336992del	GRCh38
NC_000013.10:g.32911128_32911129del , CM000675.1:g.32911128_32911129del	GRCh37
NC_000013.9:g.31809128_31809129del	NCBI36
NG_012772.3:g.26512_26513del , LRG_293:g.26512_26513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2636_2637del	ENSP00000434898.2:p.Ser879Ter
ENST00000528762.2:c.2636_2637del	ENSP00000433168.2:p.Ser879Ter
ENST00000530893.7:c.2267_2268del	ENSP00000499438.2:p.Ser756Ter
ENST00000665585.2:c.2636_2637del	ENSP00000499570.2:p.Ser879Ter
ENST00000666593.2:c.2636_2637del	ENSP00000499256.2:p.Ser879Ter
ENST00000700202.2:c.2636_2637del	ENSP00000514856.2:p.Ser879Ter
ENST00000380152.8:c.2636_2637del MANE Select	ENSP00000369497.3:p.Ser879Ter
ENST00000544455.6:c.2636_2637del	ENSP00000439902.1:p.Ser879Ter
ENST00000614259.2:c.2636_2637del	ENSP00000506251.1:p.Ser879Ter
ENST00000680887.1:c.2636_2637del	ENSP00000505508.1:p.Ser879Ter
ENST00000380152.7:c.2636_2637del	ENSP00000369497.3:p.Ser879Ter
ENST00000544455.5:c.2636_2637del	ENSP00000439902.1:p.Ser879Ter
ENST00000614259.1:n.2636_2637del
NM_000059.3:c.2636_2637del , LRG_293t1:c.2636_2637del	NP_000050.2:p.Ser879Ter
XM_011535203.1:c.2636_2637del	XP_011533505.1:p.Ser879Ter
XM_011535204.1:c.2636_2637del	XP_011533506.1:p.Ser879Ter
XM_011535205.1:c.2636_2637del	XP_011533507.1:p.Ser879Ter
NM_000059.4:c.2636_2637del MANE Select	NP_000050.3:p.Ser879Ter