Canonical Allele Identifier: CA025399

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52469
• ClinVar RCV Id: RCV000256580
• dbSNP Id: rs397507951
• MyVariant Identifiers: chr13:g.32937341_32937347dupAGAAGAT (hg19) ; chr13:g.32363204_32363210dupAGAAGAT (hg38)
• PubMed: PMID:22798144

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363204_32363210dup , CM000675.2:g.32363204_32363210dup	GRCh38
NC_000013.10:g.32937341_32937347dup , CM000675.1:g.32937341_32937347dup	GRCh37
NC_000013.9:g.31835341_31835347dup	NCBI36
NG_012772.3:g.52725_52731dup , LRG_293:g.52725_52731dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8002_8008dup	ENSP00000434898.2:p.Ser2670Ter
ENST00000528762.2:c.8002_8008dup	ENSP00000433168.2:p.Ser2670Ter
ENST00000530893.7:c.7633_7639dup	ENSP00000499438.2:p.Ser2547Ter
ENST00000665585.2:c.8002_8008dup	ENSP00000499570.2:p.Ser2670Ter
ENST00000666593.2:c.8002_8008dup	ENSP00000499256.2:p.Ser2670Ter
ENST00000700202.2:c.8002_8008dup	ENSP00000514856.2:p.Ser2670Ter
ENST00000700202.1:c.469_475dup	ENSP00000514856.1:p.Ser159Ter
ENST00000380152.8:c.8002_8008dup MANE Select	ENSP00000369497.3:p.Ser2670Ter
ENST00000544455.6:c.8002_8008dup	ENSP00000439902.1:p.Ser2670Ter
ENST00000614259.2:c.8010_8016dup	ENSP00000506251.1:n.8010_8016dup
ENST00000665585.1:c.567_573dup
ENST00000680887.1:c.8002_8008dup	ENSP00000505508.1:p.Ser2670Ter
ENST00000380152.7:c.8002_8008dup	ENSP00000369497.3:p.Ser2670Ter
ENST00000544455.5:c.8002_8008dup	ENSP00000439902.1:p.Ser2670Ter
NM_000059.3:c.8002_8008dup , LRG_293t1:c.8002_8008dup	NP_000050.2:p.Ser2670Ter
XM_011535203.1:c.8002_8008dup	XP_011533505.1:p.Ser2670Ter
XM_011535204.1:c.7906_7912dup	XP_011533506.1:p.Ser2638Ter
XM_011535205.1:c.8002_8008dup	XP_011533507.1:p.Ser2670Ter
NM_000059.4:c.8002_8008dup MANE Select	NP_000050.3:p.Ser2670Ter