Canonical Allele Identifier: CA483440075

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1671400
• ClinVar RCV Id: RCV002198883
• dbSNP Id: rs1593201839
• MyVariant Identifiers: chr13:g.32972442C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398305C>T , CM000675.2:g.32398305C>T	GRCh38
NC_000013.10:g.32972442C>T , CM000675.1:g.32972442C>T	GRCh37
NC_000013.9:g.31870442C>T	NCBI36
NG_012772.3:g.87826C>T , LRG_293:g.87826C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*315C>T	ENSP00000434898.2:n.*315C>T
ENST00000528762.2:c.*1159C>T	ENSP00000433168.2:n.*1159C>T
ENST00000530893.7:c.9423C>T	ENSP00000499438.2:p.Asn3141=
ENST00000665585.2:c.*1354C>T	ENSP00000499570.2:n.*1354C>T
ENST00000700202.2:c.9741C>T	ENSP00000514856.2:p.Asn3247=
ENST00000700202.1:c.2208C>T	ENSP00000514856.1:p.Asn736=
ENST00000700203.1:n.1919C>T
ENST00000380152.8:c.9792C>T MANE Select	ENSP00000369497.3:p.Asn3264=
ENST00000544455.6:c.9792C>T	ENSP00000439902.1:p.Asn3264=
ENST00000614259.2:c.9800C>T	ENSP00000506251.1:n.9800C>T
ENST00000680887.1:c.9792C>T	ENSP00000505508.1:p.Asn3264=
ENST00000380152.7:c.9792C>T	ENSP00000369497.3:p.Asn3264=
ENST00000533776.1:n.380C>T
ENST00000544455.5:c.9792C>T	ENSP00000439902.1:p.Asn3264=
NM_000059.3:c.9792C>T , LRG_293t1:c.9792C>T	NP_000050.2:p.Asn3264=
XM_011535203.1:c.9792C>T	XP_011533505.1:p.Asn3264=
XM_011535204.1:c.9696C>T	XP_011533506.1:p.Asn3232=
NM_000059.4:c.9792C>T MANE Select	NP_000050.3:p.Asn3264=