Canonical Allele Identifier: CA16619786

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 420962
• ClinVar RCV Id: RCV000480332 ; RCV000775938 ; RCV001584197 ; RCV002056788
• dbSNP Id: rs398122717
• gnomAD v4: 13-32379737-T-C
• MyVariant Identifiers: chr13:g.32953874T>C (hg19) ; chr13:g.32379737T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379737T>C , CM000675.2:g.32379737T>C	GRCh38
NC_000013.10:g.32953874T>C , CM000675.1:g.32953874T>C	GRCh37
NC_000013.9:g.31851874T>C	NCBI36
NG_012772.3:g.69258T>C , LRG_293:g.69258T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8954-13T>C	ENSP00000434898.2:n.8954-13T>C
ENST00000528762.2:c.*321-13T>C	ENSP00000433168.2:n.*321-13T>C
ENST00000530893.7:c.8585-13T>C	ENSP00000499438.2:n.8585-13T>C
ENST00000665585.2:c.*516-13T>C	ENSP00000499570.2:n.*516-13T>C
ENST00000666593.2:c.8954-13T>C	ENSP00000499256.2:n.8954-13T>C
ENST00000700202.2:c.8954-64T>C	ENSP00000514856.2:n.8954-64T>C
ENST00000700202.1:c.1421-64T>C	ENSP00000514856.1:n.1421-64T>C
ENST00000700203.1:n.1081-13T>C
ENST00000380152.8:c.8954-13T>C MANE Select	ENSP00000369497.3:n.8954-13T>C
ENST00000544455.6:c.8954-13T>C	ENSP00000439902.1:n.8954-13T>C
ENST00000614259.2:c.8962-13T>C	ENSP00000506251.1:n.8962-13T>C
ENST00000665585.1:c.1832-13T>C
ENST00000680887.1:c.8954-13T>C	ENSP00000505508.1:n.8954-13T>C
ENST00000380152.7:c.8954-13T>C	ENSP00000369497.3:n.8954-13T>C
ENST00000544455.5:c.8954-13T>C	ENSP00000439902.1:n.8954-13T>C
NM_000059.3:c.8954-13T>C , LRG_293t1:c.8954-13T>C	NP_000050.2:n.8954-13T>C
XM_011535203.1:c.8954-13T>C	XP_011533505.1:n.8954-13T>C
XM_011535204.1:c.8858-13T>C	XP_011533506.1:n.8858-13T>C
XM_011535205.1:c.8755-13T>C	XP_011533507.1:n.8755-13T>C
NM_000059.4:c.8954-13T>C MANE Select	NP_000050.3:n.8954-13T>C