Canonical Allele Identifier: CA247519786

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 516245
• ClinVar RCV Id: RCV000611264 ; RCV000732059 ; RCV001511262 ; RCV002256414 ; RCV004533250
• dbSNP Id: rs56014558
• gnomAD v2: 13-32921086-G-A
• gnomAD v3: 13-32346949-G-A
• gnomAD v4: 13-32346949-G-A
• MyVariant Identifiers: chr13:g.32921086G>A (hg19) ; chr13:g.32346949G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32346949G>A , CM000675.2:g.32346949G>A	GRCh38
NC_000013.10:g.32921086G>A , CM000675.1:g.32921086G>A	GRCh37
NC_000013.9:g.31819086G>A	NCBI36
NG_012772.3:g.36470G>A , LRG_293:g.36470G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7007+53G>A	ENSP00000434898.2:n.7007+53G>A
ENST00000528762.2:c.7007+53G>A	ENSP00000433168.2:n.7007+53G>A
ENST00000530893.7:c.6638+53G>A	ENSP00000499438.2:n.6638+53G>A
ENST00000665585.2:c.7007+53G>A	ENSP00000499570.2:n.7007+53G>A
ENST00000666593.2:c.7007+53G>A	ENSP00000499256.2:n.7007+53G>A
ENST00000700202.2:c.7007+53G>A	ENSP00000514856.2:n.7007+53G>A
ENST00000380152.8:c.7007+53G>A MANE Select	ENSP00000369497.3:n.7007+53G>A
ENST00000544455.6:c.7007+53G>A	ENSP00000439902.1:n.7007+53G>A
ENST00000614259.2:c.7007+53G>A	ENSP00000506251.1:n.7007+53G>A
ENST00000680887.1:c.7007+53G>A	ENSP00000505508.1:n.7007+53G>A
ENST00000380152.7:c.7007+53G>A	ENSP00000369497.3:n.7007+53G>A
ENST00000544455.5:c.7007+53G>A	ENSP00000439902.1:n.7007+53G>A
ENST00000614259.1:n.7007+53G>A
NM_000059.3:c.7007+53G>A , LRG_293t1:c.7007+53G>A	NP_000050.2:n.7007+53G>A
XM_011535203.1:c.7007+53G>A	XP_011533505.1:n.7007+53G>A
XM_011535204.1:c.6911+53G>A	XP_011533506.1:n.6911+53G>A
XM_011535205.1:c.7007+53G>A	XP_011533507.1:n.7007+53G>A
NM_000059.4:c.7007+53G>A MANE Select	NP_000050.3:n.7007+53G>A