Canonical Allele Identifier: CA387765758

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2111448
• ClinVar RCV Id: RCV003045997
• dbSNP Id: rs764208320
• MyVariant Identifiers: chr13:g.32972413G>T (hg19) ; chr13:g.32398276G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398276G>T , CM000675.2:g.32398276G>T	GRCh38
NC_000013.10:g.32972413G>T , CM000675.1:g.32972413G>T	GRCh37
NC_000013.9:g.31870413G>T	NCBI36
NG_012772.3:g.87797G>T , LRG_293:g.87797G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*286G>T	ENSP00000434898.2:n.*286G>T
ENST00000528762.2:c.*1130G>T	ENSP00000433168.2:n.*1130G>T
ENST00000530893.7:c.9394G>T	ENSP00000499438.2:p.Gly3132Trp
ENST00000665585.2:c.*1325G>T	ENSP00000499570.2:n.*1325G>T
ENST00000700202.2:c.9712G>T	ENSP00000514856.2:p.Gly3238Trp
ENST00000700202.1:c.2179G>T	ENSP00000514856.1:p.Gly727Trp
ENST00000700203.1:n.1890G>T
ENST00000380152.8:c.9763G>T MANE Select	ENSP00000369497.3:p.Gly3255Trp
ENST00000544455.6:c.9763G>T	ENSP00000439902.1:p.Gly3255Trp
ENST00000614259.2:c.9771G>T	ENSP00000506251.1:n.9771G>T
ENST00000680887.1:c.9763G>T	ENSP00000505508.1:p.Gly3255Trp
ENST00000380152.7:c.9763G>T	ENSP00000369497.3:p.Gly3255Trp
ENST00000533776.1:n.351G>T
ENST00000544455.5:c.9763G>T	ENSP00000439902.1:p.Gly3255Trp
NM_000059.3:c.9763G>T , LRG_293t1:c.9763G>T	NP_000050.2:p.Gly3255Trp
XM_011535203.1:c.9763G>T	XP_011533505.1:p.Gly3255Trp
XM_011535204.1:c.9667G>T	XP_011533506.1:p.Gly3223Trp
NM_000059.4:c.9763G>T MANE Select	NP_000050.3:p.Gly3255Trp