Canonical Allele Identifier: CA387766922

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 633110
• ClinVar RCV Id: RCV000781070 ; RCV001048506 ; RCV003461056 ; RCV003327460 ; RCV004001529
• dbSNP Id: rs1566261153
• MyVariant Identifiers: chr13:g.32972551C>T (hg19) ; chr13:g.32398414C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398414C>T , CM000675.2:g.32398414C>T	GRCh38
NC_000013.10:g.32972551C>T , CM000675.1:g.32972551C>T	GRCh37
NC_000013.9:g.31870551C>T	NCBI36
NG_012772.3:g.87935C>T , LRG_293:g.87935C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*424C>T	ENSP00000434898.2:n.*424C>T
ENST00000528762.2:c.*1268C>T	ENSP00000433168.2:n.*1268C>T
ENST00000530893.7:c.9532C>T	ENSP00000499438.2:p.Pro3178Ser
ENST00000665585.2:c.*1463C>T	ENSP00000499570.2:n.*1463C>T
ENST00000700202.2:c.9850C>T	ENSP00000514856.2:p.Pro3284Ser
ENST00000700202.1:c.2317C>T	ENSP00000514856.1:p.Pro773Ser
ENST00000700203.1:n.2028C>T
ENST00000380152.8:c.9901C>T MANE Select	ENSP00000369497.3:p.Pro3301Ser
ENST00000544455.6:c.9901C>T	ENSP00000439902.1:p.Pro3301Ser
ENST00000614259.2:c.9909C>T	ENSP00000506251.1:n.9909C>T
ENST00000680887.1:c.9901C>T	ENSP00000505508.1:p.Pro3301Ser
ENST00000380152.7:c.9901C>T	ENSP00000369497.3:p.Pro3301Ser
ENST00000533776.1:n.489C>T
ENST00000544455.5:c.9901C>T	ENSP00000439902.1:p.Pro3301Ser
NM_000059.3:c.9901C>T , LRG_293t1:c.9901C>T	NP_000050.2:p.Pro3301Ser
XM_011535203.1:c.9901C>T	XP_011533505.1:p.Pro3301Ser
XM_011535204.1:c.9805C>T	XP_011533506.1:p.Pro3269Ser
NM_000059.4:c.9901C>T MANE Select	NP_000050.3:p.Pro3301Ser