Canonical Allele Identifier: CA025438

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52496
• ClinVar RCV Id: RCV000045413 ; RCV000241259 ; RCV003460617
• dbSNP Id: rs397507962
• MyVariant Identifiers: chr13:g.32937409_32937410dupTT (hg19) ; chr13:g.32363272_32363273dupTT (hg38)
• PubMed: PMID:12955716

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363272_32363273dup , CM000675.2:g.32363272_32363273dup	GRCh38
NC_000013.10:g.32937409_32937410dup , CM000675.1:g.32937409_32937410dup	GRCh37
NC_000013.9:g.31835409_31835410dup	NCBI36
NG_012772.3:g.52793_52794dup , LRG_293:g.52793_52794dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8070_8071dup	ENSP00000434898.2:p.Ser2691PhefsTer4
ENST00000528762.2:c.8070_8071dup	ENSP00000433168.2:p.Ser2691PhefsTer4
ENST00000530893.7:c.7701_7702dup	ENSP00000499438.2:p.Ser2568PhefsTer4
ENST00000665585.2:c.8070_8071dup	ENSP00000499570.2:p.Ser2691PhefsTer4
ENST00000666593.2:c.8070_8071dup	ENSP00000499256.2:p.Ser2691PhefsTer4
ENST00000700202.2:c.8070_8071dup	ENSP00000514856.2:p.Ser2691PhefsTer4
ENST00000700202.1:c.537_538dup	ENSP00000514856.1:p.Ser180PhefsTer4
ENST00000380152.8:c.8070_8071dup MANE Select	ENSP00000369497.3:p.Ser2691PhefsTer4
ENST00000544455.6:c.8070_8071dup	ENSP00000439902.1:p.Ser2691PhefsTer4
ENST00000614259.2:c.8078_8079dup	ENSP00000506251.1:n.8078_8079dup
ENST00000665585.1:c.635_636dup
ENST00000680887.1:c.8070_8071dup	ENSP00000505508.1:p.Ser2691PhefsTer4
ENST00000380152.7:c.8070_8071dup	ENSP00000369497.3:p.Ser2691PhefsTer4
ENST00000544455.5:c.8070_8071dup	ENSP00000439902.1:p.Ser2691PhefsTer4
NM_000059.3:c.8070_8071dup , LRG_293t1:c.8070_8071dup	NP_000050.2:p.Ser2691PhefsTer4
XM_011535203.1:c.8070_8071dup	XP_011533505.1:p.Ser2691PhefsTer4
XM_011535204.1:c.7974_7975dup	XP_011533506.1:p.Ser2659PhefsTer4
XM_011535205.1:c.8070_8071dup	XP_011533507.1:p.Ser2691PhefsTer4
NM_000059.4:c.8070_8071dup MANE Select	NP_000050.3:p.Ser2691PhefsTer4