Canonical Allele Identifier: CA10579825

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 230121
• ClinVar RCV Id: RCV000214353 ; RCV000985624 ; RCV001296898
• dbSNP Id: rs397508047
• gnomAD v4: 13-32394763-G-A
• COSMIC: COSM2071569 ; COSM2071570
• MyVariant Identifiers: chr13:g.32968900G>A (hg19) ; chr13:g.32394763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394763G>A , CM000675.2:g.32394763G>A	GRCh38
NC_000013.10:g.32968900G>A , CM000675.1:g.32968900G>A	GRCh37
NC_000013.9:g.31866900G>A	NCBI36
NG_012772.3:g.84284G>A , LRG_293:g.84284G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9331G>A	ENSP00000434898.2:p.Glu3111Lys
ENST00000528762.2:c.*698G>A	ENSP00000433168.2:n.*698G>A
ENST00000530893.7:c.8962G>A	ENSP00000499438.2:p.Glu2988Lys
ENST00000665585.2:c.*893G>A	ENSP00000499570.2:n.*893G>A
ENST00000666593.2:c.*176G>A	ENSP00000499256.2:n.*176G>A
ENST00000700202.2:c.9280G>A	ENSP00000514856.2:p.Glu3094Lys
ENST00000700202.1:c.1747G>A	ENSP00000514856.1:p.Glu583Lys
ENST00000700203.1:n.1458G>A
ENST00000380152.8:c.9331G>A MANE Select	ENSP00000369497.3:p.Glu3111Lys
ENST00000544455.6:c.9331G>A	ENSP00000439902.1:p.Glu3111Lys
ENST00000614259.2:c.9339G>A	ENSP00000506251.1:n.9339G>A
ENST00000665585.1:c.2209G>A
ENST00000666593.1:c.353G>A	ENSP00000499256.1:n.353G>A
ENST00000680887.1:c.9331G>A	ENSP00000505508.1:p.Glu3111Lys
ENST00000380152.7:c.9331G>A	ENSP00000369497.3:p.Glu3111Lys
ENST00000470094.1:c.288G>A
ENST00000544455.5:c.9331G>A	ENSP00000439902.1:p.Glu3111Lys
NM_000059.3:c.9331G>A , LRG_293t1:c.9331G>A	NP_000050.2:p.Glu3111Lys
XM_011535203.1:c.9331G>A	XP_011533505.1:p.Glu3111Lys
XM_011535204.1:c.9235G>A	XP_011533506.1:p.Glu3079Lys
NM_000059.4:c.9331G>A MANE Select	NP_000050.3:p.Glu3111Lys