Canonical Allele Identifier: CA10589463

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267049
• ClinVar RCV Id: RCV000257118
• dbSNP Id: rs886040740
• MyVariant Identifiers: chr13:g.32937347_32937369del (hg19) ; chr13:g.32363210_32363232del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363210_32363232del , CM000675.2:g.32363210_32363232del	GRCh38
NC_000013.10:g.32937347_32937369del , CM000675.1:g.32937347_32937369del	GRCh37
NC_000013.9:g.31835347_31835369del	NCBI36
NG_012772.3:g.52731_52753del , LRG_293:g.52731_52753del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8008_8030del	ENSP00000434898.2:p.Ser2670LysfsTer3
ENST00000528762.2:c.8008_8030del	ENSP00000433168.2:p.Ser2670LysfsTer3
ENST00000530893.7:c.7639_7661del	ENSP00000499438.2:p.Ser2547LysfsTer3
ENST00000665585.2:c.8008_8030del	ENSP00000499570.2:p.Ser2670LysfsTer3
ENST00000666593.2:c.8008_8030del	ENSP00000499256.2:p.Ser2670LysfsTer3
ENST00000700202.2:c.8008_8030del	ENSP00000514856.2:p.Ser2670LysfsTer3
ENST00000700202.1:c.475_497del	ENSP00000514856.1:p.Ser159LysfsTer3
ENST00000380152.8:c.8008_8030del MANE Select	ENSP00000369497.3:p.Ser2670LysfsTer3
ENST00000544455.6:c.8008_8030del	ENSP00000439902.1:p.Ser2670LysfsTer3
ENST00000614259.2:c.8016_8038del	ENSP00000506251.1:n.8016_8038del
ENST00000665585.1:c.573_595del
ENST00000680887.1:c.8008_8030del	ENSP00000505508.1:p.Ser2670LysfsTer3
ENST00000380152.7:c.8008_8030del	ENSP00000369497.3:p.Ser2670LysfsTer3
ENST00000544455.5:c.8008_8030del	ENSP00000439902.1:p.Ser2670LysfsTer3
NM_000059.3:c.8008_8030del , LRG_293t1:c.8008_8030del	NP_000050.2:p.Ser2670LysfsTer3
XM_011535203.1:c.8008_8030del	XP_011533505.1:p.Ser2670LysfsTer3
XM_011535204.1:c.7912_7934del	XP_011533506.1:p.Ser2638LysfsTer3
XM_011535205.1:c.8008_8030del	XP_011533507.1:p.Ser2670LysfsTer3
NM_000059.4:c.8008_8030del MANE Select	NP_000050.3:p.Ser2670LysfsTer3