Canonical Allele Identifier: CA483440058

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 531480
• ClinVar RCV Id: RCV000637876 ; RCV002386033
• dbSNP Id: rs1555289957
• MyVariant Identifiers: chr13:g.32972427T>C (hg19) ; chr13:g.32398290T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398290T>C , CM000675.2:g.32398290T>C	GRCh38
NC_000013.10:g.32972427T>C , CM000675.1:g.32972427T>C	GRCh37
NC_000013.9:g.31870427T>C	NCBI36
NG_012772.3:g.87811T>C , LRG_293:g.87811T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*300T>C	ENSP00000434898.2:n.*300T>C
ENST00000528762.2:c.*1144T>C	ENSP00000433168.2:n.*1144T>C
ENST00000530893.7:c.9408T>C	ENSP00000499438.2:p.Ile3136=
ENST00000665585.2:c.*1339T>C	ENSP00000499570.2:n.*1339T>C
ENST00000700202.2:c.9726T>C	ENSP00000514856.2:p.Ile3242=
ENST00000700202.1:c.2193T>C	ENSP00000514856.1:p.Ile731=
ENST00000700203.1:n.1904T>C
ENST00000380152.8:c.9777T>C MANE Select	ENSP00000369497.3:p.Ile3259=
ENST00000544455.6:c.9777T>C	ENSP00000439902.1:p.Ile3259=
ENST00000614259.2:c.9785T>C	ENSP00000506251.1:n.9785T>C
ENST00000680887.1:c.9777T>C	ENSP00000505508.1:p.Ile3259=
ENST00000380152.7:c.9777T>C	ENSP00000369497.3:p.Ile3259=
ENST00000533776.1:n.365T>C
ENST00000544455.5:c.9777T>C	ENSP00000439902.1:p.Ile3259=
NM_000059.3:c.9777T>C , LRG_293t1:c.9777T>C	NP_000050.2:p.Ile3259=
XM_011535203.1:c.9777T>C	XP_011533505.1:p.Ile3259=
XM_011535204.1:c.9681T>C	XP_011533506.1:p.Ile3227=
NM_000059.4:c.9777T>C MANE Select	NP_000050.3:p.Ile3259=