Canonical Allele Identifier: CA387766418

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 823504
• ClinVar RCV Id: RCV001019801 ; RCV001213642 ; RCV004004591
• dbSNP Id: rs1593201899
• MyVariant Identifiers: chr13:g.32972492C>T (hg19) ; chr13:g.32398355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398355C>T , CM000675.2:g.32398355C>T	GRCh38
NC_000013.10:g.32972492C>T , CM000675.1:g.32972492C>T	GRCh37
NC_000013.9:g.31870492C>T	NCBI36
NG_012772.3:g.87876C>T , LRG_293:g.87876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*365C>T	ENSP00000434898.2:n.*365C>T
ENST00000528762.2:c.*1209C>T	ENSP00000433168.2:n.*1209C>T
ENST00000530893.7:c.9473C>T	ENSP00000499438.2:p.Pro3158Leu
ENST00000665585.2:c.*1404C>T	ENSP00000499570.2:n.*1404C>T
ENST00000700202.2:c.9791C>T	ENSP00000514856.2:p.Pro3264Leu
ENST00000700202.1:c.2258C>T	ENSP00000514856.1:p.Pro753Leu
ENST00000700203.1:n.1969C>T
ENST00000380152.8:c.9842C>T MANE Select	ENSP00000369497.3:p.Pro3281Leu
ENST00000544455.6:c.9842C>T	ENSP00000439902.1:p.Pro3281Leu
ENST00000614259.2:c.9850C>T	ENSP00000506251.1:n.9850C>T
ENST00000680887.1:c.9842C>T	ENSP00000505508.1:p.Pro3281Leu
ENST00000380152.7:c.9842C>T	ENSP00000369497.3:p.Pro3281Leu
ENST00000533776.1:n.430C>T
ENST00000544455.5:c.9842C>T	ENSP00000439902.1:p.Pro3281Leu
NM_000059.3:c.9842C>T , LRG_293t1:c.9842C>T	NP_000050.2:p.Pro3281Leu
XM_011535203.1:c.9842C>T	XP_011533505.1:p.Pro3281Leu
XM_011535204.1:c.9746C>T	XP_011533506.1:p.Pro3249Leu
NM_000059.4:c.9842C>T MANE Select	NP_000050.3:p.Pro3281Leu