Canonical Allele Identifier: CA387757672

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1360282
• ClinVar RCV Id: RCV001872458
• dbSNP Id: rs864622582
• MyVariant Identifiers: chr13:g.32954029A>T (hg19) ; chr13:g.32379892A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379892A>T , CM000675.2:g.32379892A>T	GRCh38
NC_000013.10:g.32954029A>T , CM000675.1:g.32954029A>T	GRCh37
NC_000013.9:g.31852029A>T	NCBI36
NG_012772.3:g.69413A>T , LRG_293:g.69413A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9096A>T	ENSP00000434898.2:p.Lys3032Asn
ENST00000528762.2:c.*463A>T	ENSP00000433168.2:n.*463A>T
ENST00000530893.7:c.8727A>T	ENSP00000499438.2:p.Lys2909Asn
ENST00000665585.2:c.*658A>T	ENSP00000499570.2:n.*658A>T
ENST00000666593.2:c.9096A>T	ENSP00000499256.2:p.Lys3032Asn
ENST00000700202.2:c.9045A>T	ENSP00000514856.2:p.Lys3015Asn
ENST00000700202.1:c.1512A>T	ENSP00000514856.1:p.Lys504Asn
ENST00000700203.1:n.1223A>T
ENST00000380152.8:c.9096A>T MANE Select	ENSP00000369497.3:p.Lys3032Asn
ENST00000544455.6:c.9096A>T	ENSP00000439902.1:p.Lys3032Asn
ENST00000614259.2:c.9104A>T	ENSP00000506251.1:n.9104A>T
ENST00000665585.1:c.1974A>T
ENST00000680887.1:c.9096A>T	ENSP00000505508.1:p.Lys3032Asn
ENST00000380152.7:c.9096A>T	ENSP00000369497.3:p.Lys3032Asn
ENST00000470094.1:c.53A>T
ENST00000544455.5:c.9096A>T	ENSP00000439902.1:p.Lys3032Asn
NM_000059.3:c.9096A>T , LRG_293t1:c.9096A>T	NP_000050.2:p.Lys3032Asn
XM_011535203.1:c.9096A>T	XP_011533505.1:p.Lys3032Asn
XM_011535204.1:c.9000A>T	XP_011533506.1:p.Lys3000Asn
NM_000059.4:c.9096A>T MANE Select	NP_000050.3:p.Lys3032Asn