Canonical Allele Identifier: CA387754957

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2585620
• ClinVar RCV Id: RCV003338239
• dbSNP Id: rs2137613231
• MyVariant Identifiers: chr13:g.32950894C>T (hg19) ; chr13:g.32376757C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376757C>T , CM000675.2:g.32376757C>T	GRCh38
NC_000013.10:g.32950894C>T , CM000675.1:g.32950894C>T	GRCh37
NC_000013.9:g.31848894C>T	NCBI36
NG_012772.3:g.66278C>T , LRG_293:g.66278C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8720C>T	ENSP00000434898.2:p.Ala2907Val
ENST00000528762.2:c.*87C>T	ENSP00000433168.2:n.*87C>T
ENST00000530893.7:c.8351C>T	ENSP00000499438.2:p.Ala2784Val
ENST00000665585.2:c.*282C>T	ENSP00000499570.2:n.*282C>T
ENST00000666593.2:c.8720C>T	ENSP00000499256.2:p.Ala2907Val
ENST00000700202.2:c.8720C>T	ENSP00000514856.2:p.Ala2907Val
ENST00000700202.1:c.1187C>T	ENSP00000514856.1:p.Ala396Val
ENST00000700203.1:n.847C>T
ENST00000380152.8:c.8720C>T MANE Select	ENSP00000369497.3:p.Ala2907Val
ENST00000544455.6:c.8720C>T	ENSP00000439902.1:p.Ala2907Val
ENST00000614259.2:c.8728C>T	ENSP00000506251.1:n.8728C>T
ENST00000665585.1:c.1598C>T
ENST00000680887.1:c.8720C>T	ENSP00000505508.1:p.Ala2907Val
ENST00000380152.7:c.8720C>T	ENSP00000369497.3:p.Ala2907Val
ENST00000528762.1:c.282C>T	ENSP00000433168.1:n.282C>T
ENST00000544455.5:c.8720C>T	ENSP00000439902.1:p.Ala2907Val
NM_000059.3:c.8720C>T , LRG_293t1:c.8720C>T	NP_000050.2:p.Ala2907Val
XM_011535203.1:c.8720C>T	XP_011533505.1:p.Ala2907Val
XM_011535204.1:c.8624C>T	XP_011533506.1:p.Ala2875Val
XM_011535205.1:c.8720C>T	XP_011533507.1:p.Ala2907Val
NM_000059.4:c.8720C>T MANE Select	NP_000050.3:p.Ala2907Val