Canonical Allele Identifier: CA387766055

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1768263
• ClinVar RCV Id: RCV002376799
• gnomAD v4: 13-32398313-A-C
• MyVariant Identifiers: chr13:g.32972450A>C (hg19) ; chr13:g.32398313A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398313A>C , CM000675.2:g.32398313A>C	GRCh38
NC_000013.10:g.32972450A>C , CM000675.1:g.32972450A>C	GRCh37
NC_000013.9:g.31870450A>C	NCBI36
NG_012772.3:g.87834A>C , LRG_293:g.87834A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*323A>C	ENSP00000434898.2:n.*323A>C
ENST00000528762.2:c.*1167A>C	ENSP00000433168.2:n.*1167A>C
ENST00000530893.7:c.9431A>C	ENSP00000499438.2:p.Lys3144Thr
ENST00000665585.2:c.*1362A>C	ENSP00000499570.2:n.*1362A>C
ENST00000700202.2:c.9749A>C	ENSP00000514856.2:p.Lys3250Thr
ENST00000700202.1:c.2216A>C	ENSP00000514856.1:p.Lys739Thr
ENST00000700203.1:n.1927A>C
ENST00000380152.8:c.9800A>C MANE Select	ENSP00000369497.3:p.Lys3267Thr
ENST00000544455.6:c.9800A>C	ENSP00000439902.1:p.Lys3267Thr
ENST00000614259.2:c.9808A>C	ENSP00000506251.1:n.9808A>C
ENST00000680887.1:c.9800A>C	ENSP00000505508.1:p.Lys3267Thr
ENST00000380152.7:c.9800A>C	ENSP00000369497.3:p.Lys3267Thr
ENST00000533776.1:n.388A>C
ENST00000544455.5:c.9800A>C	ENSP00000439902.1:p.Lys3267Thr
NM_000059.3:c.9800A>C , LRG_293t1:c.9800A>C	NP_000050.2:p.Lys3267Thr
XM_011535203.1:c.9800A>C	XP_011533505.1:p.Lys3267Thr
XM_011535204.1:c.9704A>C	XP_011533506.1:p.Lys3235Thr
NM_000059.4:c.9800A>C MANE Select	NP_000050.3:p.Lys3267Thr