Canonical Allele Identifier: CA16606713

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 385156
• ClinVar RCV Id: RCV000437924 ; RCV001180015 ; RCV002525390
• dbSNP Id: rs919415219
• MyVariant Identifiers: chr13:g.32972668G>A (hg19) ; chr13:g.32398531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398531G>A , CM000675.2:g.32398531G>A	GRCh38
NC_000013.10:g.32972668G>A , CM000675.1:g.32972668G>A	GRCh37
NC_000013.9:g.31870668G>A	NCBI36
NG_012772.3:g.88052G>A , LRG_293:g.88052G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*541G>A	ENSP00000434898.2:n.*541G>A
ENST00000528762.2:c.*1385G>A	ENSP00000433168.2:n.*1385G>A
ENST00000530893.7:c.9649G>A	ENSP00000499438.2:p.Ala3217Thr
ENST00000665585.2:c.*1580G>A	ENSP00000499570.2:n.*1580G>A
ENST00000700202.2:c.9967G>A	ENSP00000514856.2:p.Ala3323Thr
ENST00000700202.1:c.2434G>A	ENSP00000514856.1:p.Ala812Thr
ENST00000700203.1:n.2145G>A
ENST00000380152.8:c.10018G>A MANE Select	ENSP00000369497.3:p.Ala3340Thr
ENST00000544455.6:c.10018G>A	ENSP00000439902.1:p.Ala3340Thr
ENST00000614259.2:c.10026G>A	ENSP00000506251.1:n.10026G>A
ENST00000680887.1:c.10018G>A	ENSP00000505508.1:p.Ala3340Thr
ENST00000380152.7:c.10018G>A	ENSP00000369497.3:p.Ala3340Thr
ENST00000544455.5:c.10018G>A	ENSP00000439902.1:p.Ala3340Thr
NM_000059.3:c.10018G>A , LRG_293t1:c.10018G>A	NP_000050.2:p.Ala3340Thr
XM_011535203.1:c.10018G>A	XP_011533505.1:p.Ala3340Thr
XM_011535204.1:c.9922G>A	XP_011533506.1:p.Ala3308Thr
NM_000059.4:c.10018G>A MANE Select	NP_000050.3:p.Ala3340Thr