Canonical Allele Identifier: CA387757676

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 977486
• ClinVar RCV Id: RCV001255160
• dbSNP Id: rs766308212
• MyVariant Identifiers: chr13:g.32954030A>T (hg19) ; chr13:g.32379893A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379893A>T , CM000675.2:g.32379893A>T	GRCh38
NC_000013.10:g.32954030A>T , CM000675.1:g.32954030A>T	GRCh37
NC_000013.9:g.31852030A>T	NCBI36
NG_012772.3:g.69414A>T , LRG_293:g.69414A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9097A>T	ENSP00000434898.2:p.Thr3033Ser
ENST00000528762.2:c.*464A>T	ENSP00000433168.2:n.*464A>T
ENST00000530893.7:c.8728A>T	ENSP00000499438.2:p.Thr2910Ser
ENST00000665585.2:c.*659A>T	ENSP00000499570.2:n.*659A>T
ENST00000666593.2:c.9097A>T	ENSP00000499256.2:p.Thr3033Ser
ENST00000700202.2:c.9046A>T	ENSP00000514856.2:p.Thr3016Ser
ENST00000700202.1:c.1513A>T	ENSP00000514856.1:p.Thr505Ser
ENST00000700203.1:n.1224A>T
ENST00000380152.8:c.9097A>T MANE Select	ENSP00000369497.3:p.Thr3033Ser
ENST00000544455.6:c.9097A>T	ENSP00000439902.1:p.Thr3033Ser
ENST00000614259.2:c.9105A>T	ENSP00000506251.1:n.9105A>T
ENST00000665585.1:c.1975A>T
ENST00000680887.1:c.9097A>T	ENSP00000505508.1:p.Thr3033Ser
ENST00000380152.7:c.9097A>T	ENSP00000369497.3:p.Thr3033Ser
ENST00000470094.1:c.54A>T
ENST00000544455.5:c.9097A>T	ENSP00000439902.1:p.Thr3033Ser
NM_000059.3:c.9097A>T , LRG_293t1:c.9097A>T	NP_000050.2:p.Thr3033Ser
XM_011535203.1:c.9097A>T	XP_011533505.1:p.Thr3033Ser
XM_011535204.1:c.9001A>T	XP_011533506.1:p.Thr3001Ser
NM_000059.4:c.9097A>T MANE Select	NP_000050.3:p.Thr3033Ser