Canonical Allele Identifier: CA276656

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 209687
• ClinVar RCV Id: RCV000191635 ; RCV000585666 ; RCV001711491 ; RCV002408853
• dbSNP Id: rs2320236
• gnomAD v2: 13-32910328-T-C
• gnomAD v3: 13-32336191-T-C
• gnomAD v4: 13-32336191-T-C
• MyVariant Identifiers: chr13:g.32910328T>C (hg19) ; chr13:g.32336191T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32336191T>C , CM000675.2:g.32336191T>C	GRCh38
NC_000013.10:g.32910328T>C , CM000675.1:g.32910328T>C	GRCh37
NC_000013.9:g.31808328T>C	NCBI36
NG_012772.3:g.25712T>C , LRG_293:g.25712T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1910-74T>C	ENSP00000434898.2:n.1910-74T>C
ENST00000528762.2:c.1910-74T>C	ENSP00000433168.2:n.1910-74T>C
ENST00000530893.7:c.1541-74T>C	ENSP00000499438.2:n.1541-74T>C
ENST00000665585.2:c.1910-74T>C	ENSP00000499570.2:n.1910-74T>C
ENST00000666593.2:c.1910-74T>C	ENSP00000499256.2:n.1910-74T>C
ENST00000700202.2:c.1910-74T>C	ENSP00000514856.2:n.1910-74T>C
ENST00000380152.8:c.1910-74T>C MANE Select	ENSP00000369497.3:n.1910-74T>C
ENST00000544455.6:c.1910-74T>C	ENSP00000439902.1:n.1910-74T>C
ENST00000614259.2:c.1910-74T>C	ENSP00000506251.1:n.1910-74T>C
ENST00000680887.1:c.1910-74T>C	ENSP00000505508.1:n.1910-74T>C
ENST00000380152.7:c.1910-74T>C	ENSP00000369497.3:n.1910-74T>C
ENST00000544455.5:c.1910-74T>C	ENSP00000439902.1:n.1910-74T>C
ENST00000614259.1:n.1910-74T>C
NM_000059.3:c.1910-74T>C , LRG_293t1:c.1910-74T>C	NP_000050.2:n.1910-74T>C
XM_011535203.1:c.1910-74T>C	XP_011533505.1:n.1910-74T>C
XM_011535204.1:c.1910-74T>C	XP_011533506.1:n.1910-74T>C
XM_011535205.1:c.1910-74T>C	XP_011533507.1:n.1910-74T>C
NM_000059.4:c.1910-74T>C MANE Select	NP_000050.3:n.1910-74T>C