Canonical Allele Identifier: CA387765818

Gene: BRCA2

Linked Data

• dbSNP Id: rs1363146360
• MyVariant Identifiers: chr13:g.32972421A>T (hg19) ; chr13:g.32398284A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398284A>T , CM000675.2:g.32398284A>T	GRCh38
NC_000013.10:g.32972421A>T , CM000675.1:g.32972421A>T	GRCh37
NC_000013.9:g.31870421A>T	NCBI36
NG_012772.3:g.87805A>T , LRG_293:g.87805A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*294A>T	ENSP00000434898.2:n.*294A>T
ENST00000528762.2:c.*1138A>T	ENSP00000433168.2:n.*1138A>T
ENST00000530893.7:c.9402A>T	ENSP00000499438.2:p.Lys3134Asn
ENST00000665585.2:c.*1333A>T	ENSP00000499570.2:n.*1333A>T
ENST00000700202.2:c.9720A>T	ENSP00000514856.2:p.Lys3240Asn
ENST00000700202.1:c.2187A>T	ENSP00000514856.1:p.Lys729Asn
ENST00000700203.1:n.1898A>T
ENST00000380152.8:c.9771A>T MANE Select	ENSP00000369497.3:p.Lys3257Asn
ENST00000544455.6:c.9771A>T	ENSP00000439902.1:p.Lys3257Asn
ENST00000614259.2:c.9779A>T	ENSP00000506251.1:n.9779A>T
ENST00000680887.1:c.9771A>T	ENSP00000505508.1:p.Lys3257Asn
ENST00000380152.7:c.9771A>T	ENSP00000369497.3:p.Lys3257Asn
ENST00000533776.1:n.359A>T
ENST00000544455.5:c.9771A>T	ENSP00000439902.1:p.Lys3257Asn
NM_000059.3:c.9771A>T , LRG_293t1:c.9771A>T	NP_000050.2:p.Lys3257Asn
XM_011535203.1:c.9771A>T	XP_011533505.1:p.Lys3257Asn
XM_011535204.1:c.9675A>T	XP_011533506.1:p.Lys3225Asn
NM_000059.4:c.9771A>T MANE Select	NP_000050.3:p.Lys3257Asn