Canonical Allele Identifier: CA013772

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 126028
• ClinVar RCV Id: RCV000113249 ; RCV002408613
• dbSNP Id: rs80358480
• MyVariant Identifiers: chr13:g.32893335A>C (hg19) ; chr13:g.32319198A>C (hg38)
• PubMed: PMID:17899372

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319198A>C , CM000675.2:g.32319198A>C	GRCh38
NC_000013.10:g.32893335A>C , CM000675.1:g.32893335A>C	GRCh37
NC_000013.9:g.31791335A>C	NCBI36
NG_012772.3:g.8719A>C , LRG_293:g.8719A>C
NG_017006.2:g.1166T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.189A>C	ENSP00000434898.2:p.Lys63Asn
ENST00000528762.2:c.189A>C	ENSP00000433168.2:p.Lys63Asn
ENST00000530893.7:c.-181A>C	ENSP00000499438.2:n.-181A>C
ENST00000665585.2:c.189A>C	ENSP00000499570.2:p.Lys63Asn
ENST00000666593.2:c.189A>C	ENSP00000499256.2:p.Lys63Asn
ENST00000700202.2:c.189A>C	ENSP00000514856.2:p.Lys63Asn
ENST00000700200.1:n.191+2671A>C
ENST00000700201.1:c.189A>C	ENSP00000514855.1:p.Lys63Asn
ENST00000380152.8:c.189A>C MANE Select	ENSP00000369497.3:p.Lys63Asn
ENST00000544455.6:c.189A>C	ENSP00000439902.1:p.Lys63Asn
ENST00000614259.2:c.189A>C	ENSP00000506251.1:p.Lys63Asn
ENST00000680887.1:c.189A>C	ENSP00000505508.1:p.Lys63Asn
ENST00000380152.7:c.189A>C	ENSP00000369497.3:p.Lys63Asn
ENST00000530893.6:n.387A>C
ENST00000544455.5:c.189A>C	ENSP00000439902.1:p.Lys63Asn
ENST00000614259.1:n.189A>C
NM_000059.3:c.189A>C , LRG_293t1:c.189A>C	NP_000050.2:p.Lys63Asn
XM_011535203.1:c.189A>C	XP_011533505.1:p.Lys63Asn
XM_011535204.1:c.189A>C	XP_011533506.1:p.Lys63Asn
XM_011535205.1:c.189A>C	XP_011533507.1:p.Lys63Asn
NM_000059.4:c.189A>C MANE Select	NP_000050.3:p.Lys63Asn