Canonical Allele Identifier: CA387761167

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 439019
• ClinVar RCV Id: RCV000507354 ; RCV000581025 ; RCV001865647
• dbSNP Id: rs587782313
• MyVariant Identifiers: chr13:g.32968933G>C (hg19) ; chr13:g.32394796G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394796G>C , CM000675.2:g.32394796G>C	GRCh38
NC_000013.10:g.32968933G>C , CM000675.1:g.32968933G>C	GRCh37
NC_000013.9:g.31866933G>C	NCBI36
NG_012772.3:g.84317G>C , LRG_293:g.84317G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9364G>C	ENSP00000434898.2:p.Ala3122Pro
ENST00000528762.2:c.*731G>C	ENSP00000433168.2:n.*731G>C
ENST00000530893.7:c.8995G>C	ENSP00000499438.2:p.Ala2999Pro
ENST00000665585.2:c.*926G>C	ENSP00000499570.2:n.*926G>C
ENST00000666593.2:c.*209G>C	ENSP00000499256.2:n.*209G>C
ENST00000700202.2:c.9313G>C	ENSP00000514856.2:p.Ala3105Pro
ENST00000700202.1:c.1780G>C	ENSP00000514856.1:p.Ala594Pro
ENST00000700203.1:n.1491G>C
ENST00000380152.8:c.9364G>C MANE Select	ENSP00000369497.3:p.Ala3122Pro
ENST00000544455.6:c.9364G>C	ENSP00000439902.1:p.Ala3122Pro
ENST00000614259.2:c.9372G>C	ENSP00000506251.1:n.9372G>C
ENST00000665585.1:c.2242G>C
ENST00000666593.1:c.386G>C	ENSP00000499256.1:n.386G>C
ENST00000680887.1:c.9364G>C	ENSP00000505508.1:p.Ala3122Pro
ENST00000380152.7:c.9364G>C	ENSP00000369497.3:p.Ala3122Pro
ENST00000470094.1:c.321G>C
ENST00000544455.5:c.9364G>C	ENSP00000439902.1:p.Ala3122Pro
NM_000059.3:c.9364G>C , LRG_293t1:c.9364G>C	NP_000050.2:p.Ala3122Pro
XM_011535203.1:c.9364G>C	XP_011533505.1:p.Ala3122Pro
XM_011535204.1:c.9268G>C	XP_011533506.1:p.Ala3090Pro
NM_000059.4:c.9364G>C MANE Select	NP_000050.3:p.Ala3122Pro