Canonical Allele Identifier: CA10602557

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267715
• ClinVar RCV Id: RCV000258500 ; RCV001227101 ; RCV001328369
• dbSNP Id: rs28897756
• MyVariant Identifiers: chr13:g.32954050G>T (hg19) ; chr13:g.32379913G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379913G>T , CM000675.2:g.32379913G>T	GRCh38
NC_000013.10:g.32954050G>T , CM000675.1:g.32954050G>T	GRCh37
NC_000013.9:g.31852050G>T	NCBI36
NG_012772.3:g.69434G>T , LRG_293:g.69434G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9117G>T	ENSP00000434898.2:p.Pro3039=
ENST00000528762.2:c.*484G>T	ENSP00000433168.2:n.*484G>T
ENST00000530893.7:c.8748G>T	ENSP00000499438.2:p.Pro2916=
ENST00000665585.2:c.*679G>T	ENSP00000499570.2:n.*679G>T
ENST00000666593.2:c.9117G>T	ENSP00000499256.2:p.Pro3039=
ENST00000700202.2:c.9066G>T	ENSP00000514856.2:p.Pro3022=
ENST00000700202.1:c.1533G>T	ENSP00000514856.1:p.Pro511=
ENST00000700203.1:n.1244G>T
ENST00000380152.8:c.9117G>T MANE Select	ENSP00000369497.3:p.Pro3039=
ENST00000544455.6:c.9117G>T	ENSP00000439902.1:p.Pro3039=
ENST00000614259.2:c.9125G>T	ENSP00000506251.1:n.9125G>T
ENST00000665585.1:c.1995G>T
ENST00000680887.1:c.9117G>T	ENSP00000505508.1:p.Pro3039=
ENST00000380152.7:c.9117G>T	ENSP00000369497.3:p.Pro3039=
ENST00000470094.1:c.74G>T
ENST00000544455.5:c.9117G>T	ENSP00000439902.1:p.Pro3039=
NM_000059.3:c.9117G>T , LRG_293t1:c.9117G>T	NP_000050.2:p.Pro3039=
XM_011535203.1:c.9117G>T	XP_011533505.1:p.Pro3039=
XM_011535204.1:c.9021G>T	XP_011533506.1:p.Pro3007=
NM_000059.4:c.9117G>T MANE Select	NP_000050.3:p.Pro3039=