Canonical Allele Identifier: CA387767135

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 481595
• ClinVar RCV Id: RCV000574644 ; RCV001367217 ; RCV003459321
• dbSNP Id: rs1275047772
• MyVariant Identifiers: chr13:g.32972581C>T (hg19) ; chr13:g.32398444C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398444C>T , CM000675.2:g.32398444C>T	GRCh38
NC_000013.10:g.32972581C>T , CM000675.1:g.32972581C>T	GRCh37
NC_000013.9:g.31870581C>T	NCBI36
NG_012772.3:g.87965C>T , LRG_293:g.87965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*454C>T	ENSP00000434898.2:n.*454C>T
ENST00000528762.2:c.*1298C>T	ENSP00000433168.2:n.*1298C>T
ENST00000530893.7:c.9562C>T	ENSP00000499438.2:p.Pro3188Ser
ENST00000665585.2:c.*1493C>T	ENSP00000499570.2:n.*1493C>T
ENST00000700202.2:c.9880C>T	ENSP00000514856.2:p.Pro3294Ser
ENST00000700202.1:c.2347C>T	ENSP00000514856.1:p.Pro783Ser
ENST00000700203.1:n.2058C>T
ENST00000380152.8:c.9931C>T MANE Select	ENSP00000369497.3:p.Pro3311Ser
ENST00000544455.6:c.9931C>T	ENSP00000439902.1:p.Pro3311Ser
ENST00000614259.2:c.9939C>T	ENSP00000506251.1:n.9939C>T
ENST00000680887.1:c.9931C>T	ENSP00000505508.1:p.Pro3311Ser
ENST00000380152.7:c.9931C>T	ENSP00000369497.3:p.Pro3311Ser
ENST00000533776.1:n.519C>T
ENST00000544455.5:c.9931C>T	ENSP00000439902.1:p.Pro3311Ser
NM_000059.3:c.9931C>T , LRG_293t1:c.9931C>T	NP_000050.2:p.Pro3311Ser
XM_011535203.1:c.9931C>T	XP_011533505.1:p.Pro3311Ser
XM_011535204.1:c.9835C>T	XP_011533506.1:p.Pro3279Ser
NM_000059.4:c.9931C>T MANE Select	NP_000050.3:p.Pro3311Ser