Canonical Allele Identifier: CA387755760

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 439014
• ClinVar RCV Id: RCV000507777
• dbSNP Id: rs80359132
• MyVariant Identifiers: chr13:g.32953463A>C (hg19) ; chr13:g.32379326A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379326A>C , CM000675.2:g.32379326A>C	GRCh38
NC_000013.10:g.32953463A>C , CM000675.1:g.32953463A>C	GRCh37
NC_000013.9:g.31851463A>C	NCBI36
NG_012772.3:g.68847A>C , LRG_293:g.68847A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8764A>C	ENSP00000434898.2:p.Ser2922Arg
ENST00000528762.2:c.*131A>C	ENSP00000433168.2:n.*131A>C
ENST00000530893.7:c.8395A>C	ENSP00000499438.2:p.Ser2799Arg
ENST00000665585.2:c.*326A>C	ENSP00000499570.2:n.*326A>C
ENST00000666593.2:c.8764A>C	ENSP00000499256.2:p.Ser2922Arg
ENST00000700202.2:c.8764A>C	ENSP00000514856.2:p.Ser2922Arg
ENST00000700202.1:c.1231A>C	ENSP00000514856.1:p.Ser411Arg
ENST00000700203.1:n.891A>C
ENST00000380152.8:c.8764A>C MANE Select	ENSP00000369497.3:p.Ser2922Arg
ENST00000544455.6:c.8764A>C	ENSP00000439902.1:p.Ser2922Arg
ENST00000614259.2:c.8772A>C	ENSP00000506251.1:n.8772A>C
ENST00000665585.1:c.1642A>C
ENST00000680887.1:c.8764A>C	ENSP00000505508.1:p.Ser2922Arg
ENST00000380152.7:c.8764A>C	ENSP00000369497.3:p.Ser2922Arg
ENST00000528762.1:c.326A>C	ENSP00000433168.1:n.326A>C
ENST00000544455.5:c.8764A>C	ENSP00000439902.1:p.Ser2922Arg
NM_000059.3:c.8764A>C , LRG_293t1:c.8764A>C	NP_000050.2:p.Ser2922Arg
XM_011535203.1:c.8764A>C	XP_011533505.1:p.Ser2922Arg
XM_011535204.1:c.8668A>C	XP_011533506.1:p.Ser2890Arg
XM_011535205.1:c.8755-424A>C	XP_011533507.1:n.8755-424A>C
NM_000059.4:c.8764A>C MANE Select	NP_000050.3:p.Ser2922Arg