Canonical Allele Identifier: CA387754792

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 645800
• ClinVar RCV Id: RCV000799956 ; RCV001018177
• dbSNP Id: rs373203204
• gnomAD v4: 13-32376723-C-A
• MyVariant Identifiers: chr13:g.32950860C>A (hg19) ; chr13:g.32376723C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376723C>A , CM000675.2:g.32376723C>A	GRCh38
NC_000013.10:g.32950860C>A , CM000675.1:g.32950860C>A	GRCh37
NC_000013.9:g.31848860C>A	NCBI36
NG_012772.3:g.66244C>A , LRG_293:g.66244C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8686C>A	ENSP00000434898.2:p.Arg2896Ser
ENST00000528762.2:c.*53C>A	ENSP00000433168.2:n.*53C>A
ENST00000530893.7:c.8317C>A	ENSP00000499438.2:p.Arg2773Ser
ENST00000665585.2:c.*248C>A	ENSP00000499570.2:n.*248C>A
ENST00000666593.2:c.8686C>A	ENSP00000499256.2:p.Arg2896Ser
ENST00000700202.2:c.8686C>A	ENSP00000514856.2:p.Arg2896Ser
ENST00000700202.1:c.1153C>A	ENSP00000514856.1:p.Arg385Ser
ENST00000700203.1:n.813C>A
ENST00000380152.8:c.8686C>A MANE Select	ENSP00000369497.3:p.Arg2896Ser
ENST00000544455.6:c.8686C>A	ENSP00000439902.1:p.Arg2896Ser
ENST00000614259.2:c.8694C>A	ENSP00000506251.1:n.8694C>A
ENST00000665585.1:c.1564C>A
ENST00000680887.1:c.8686C>A	ENSP00000505508.1:p.Arg2896Ser
ENST00000380152.7:c.8686C>A	ENSP00000369497.3:p.Arg2896Ser
ENST00000528762.1:c.248C>A	ENSP00000433168.1:n.248C>A
ENST00000544455.5:c.8686C>A	ENSP00000439902.1:p.Arg2896Ser
NM_000059.3:c.8686C>A , LRG_293t1:c.8686C>A	NP_000050.2:p.Arg2896Ser
XM_011535203.1:c.8686C>A	XP_011533505.1:p.Arg2896Ser
XM_011535204.1:c.8590C>A	XP_011533506.1:p.Arg2864Ser
XM_011535205.1:c.8686C>A	XP_011533507.1:p.Arg2896Ser
NM_000059.4:c.8686C>A MANE Select	NP_000050.3:p.Arg2896Ser