Canonical Allele Identifier: CA024911

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52275
• ClinVar RCV Id: RCV000113715
• dbSNP Id: rs80359639
• MyVariant Identifiers: chr13:g.32929146dupT (hg19) ; chr13:g.32355009dupT (hg38)
• PubMed: PMID:11595708

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32355009dup , CM000675.2:g.32355009dup	GRCh38
NC_000013.10:g.32929146dup , CM000675.1:g.32929146dup	GRCh37
NC_000013.9:g.31827146dup	NCBI36
NG_012772.3:g.44530dup , LRG_293:g.44530dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7156dup	ENSP00000434898.2:p.Ser2386PhefsTer6
ENST00000528762.2:c.7156dup	ENSP00000433168.2:p.Ser2386PhefsTer6
ENST00000530893.7:c.6787dup	ENSP00000499438.2:p.Ser2263PhefsTer6
ENST00000665585.2:c.7156dup	ENSP00000499570.2:p.Ser2386PhefsTer6
ENST00000666593.2:c.7156dup	ENSP00000499256.2:p.Ser2386PhefsTer6
ENST00000700202.2:c.7156dup	ENSP00000514856.2:p.Ser2386PhefsTer6
ENST00000380152.8:c.7156dup MANE Select	ENSP00000369497.3:p.Ser2386PhefsTer6
ENST00000544455.6:c.7156dup	ENSP00000439902.1:p.Ser2386PhefsTer6
ENST00000614259.2:c.7156dup	ENSP00000506251.1:p.Ser2386PhefsTer6
ENST00000680887.1:c.7156dup	ENSP00000505508.1:p.Ser2386PhefsTer6
ENST00000380152.7:c.7156dup	ENSP00000369497.3:p.Ser2386PhefsTer6
ENST00000544455.5:c.7156dup	ENSP00000439902.1:p.Ser2386PhefsTer6
ENST00000614259.1:n.7156dup
NM_000059.3:c.7156dup , LRG_293t1:c.7156dup	NP_000050.2:p.Ser2386PhefsTer6
XM_011535203.1:c.7156dup	XP_011533505.1:p.Ser2386PhefsTer6
XM_011535204.1:c.7060dup	XP_011533506.1:p.Ser2354PhefsTer6
XM_011535205.1:c.7156dup	XP_011533507.1:p.Ser2386PhefsTer6
NM_000059.4:c.7156dup MANE Select	NP_000050.3:p.Ser2386PhefsTer6