Canonical Allele Identifier: CA348983

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 220790
• ClinVar RCV Id: RCV000204787
• dbSNP Id: rs864622658
• MyVariant Identifiers: chr13:g.32950820A>T (hg19) ; chr13:g.32376683A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376683A>T , CM000675.2:g.32376683A>T	GRCh38
NC_000013.10:g.32950820A>T , CM000675.1:g.32950820A>T	GRCh37
NC_000013.9:g.31848820A>T	NCBI36
NG_012772.3:g.66204A>T , LRG_293:g.66204A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8646A>T	ENSP00000434898.2:p.Lys2882Asn
ENST00000528762.2:c.*13A>T	ENSP00000433168.2:n.*13A>T
ENST00000530893.7:c.8277A>T	ENSP00000499438.2:p.Lys2759Asn
ENST00000665585.2:c.*208A>T	ENSP00000499570.2:n.*208A>T
ENST00000666593.2:c.8646A>T	ENSP00000499256.2:p.Lys2882Asn
ENST00000700202.2:c.8646A>T	ENSP00000514856.2:p.Lys2882Asn
ENST00000700202.1:c.1113A>T	ENSP00000514856.1:p.Lys371Asn
ENST00000700203.1:n.773A>T
ENST00000380152.8:c.8646A>T MANE Select	ENSP00000369497.3:p.Lys2882Asn
ENST00000544455.6:c.8646A>T	ENSP00000439902.1:p.Lys2882Asn
ENST00000614259.2:c.8654A>T	ENSP00000506251.1:n.8654A>T
ENST00000665585.1:c.1524A>T
ENST00000680887.1:c.8646A>T	ENSP00000505508.1:p.Lys2882Asn
ENST00000380152.7:c.8646A>T	ENSP00000369497.3:p.Lys2882Asn
ENST00000528762.1:c.208A>T	ENSP00000433168.1:n.208A>T
ENST00000544455.5:c.8646A>T	ENSP00000439902.1:p.Lys2882Asn
NM_000059.3:c.8646A>T , LRG_293t1:c.8646A>T	NP_000050.2:p.Lys2882Asn
XM_011535203.1:c.8646A>T	XP_011533505.1:p.Lys2882Asn
XM_011535204.1:c.8550A>T	XP_011533506.1:p.Lys2850Asn
XM_011535205.1:c.8646A>T	XP_011533507.1:p.Lys2882Asn
NM_000059.4:c.8646A>T MANE Select	NP_000050.3:p.Lys2882Asn