Canonical Allele Identifier: CA658798079

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 506545
• ClinVar RCV Id: RCV000605195 ; RCV001854149
• dbSNP Id: rs1555279958
• MyVariant Identifiers: chr13:g.32889788C>A (hg19) ; chr13:g.32315651C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315651C>A , CM000675.2:g.32315651C>A	GRCh38
NC_000013.10:g.32889788C>A , CM000675.1:g.32889788C>A	GRCh37
NC_000013.9:g.31787788C>A	NCBI36
NG_012772.3:g.5172C>A , LRG_293:g.5172C>A
NG_017006.1:g.1304G>T
NG_017006.2:g.4713G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-56C>A	ENSP00000434898.2:n.-56C>A
ENST00000528762.2:c.-56C>A	ENSP00000433168.2:n.-56C>A
ENST00000530893.7:c.-421C>A	ENSP00000499438.2:n.-421C>A
ENST00000665585.2:c.-56C>A	ENSP00000499570.2:n.-56C>A
ENST00000666593.2:c.-56C>A	ENSP00000499256.2:n.-56C>A
ENST00000700202.2:c.-56C>A	ENSP00000514856.2:n.-56C>A
ENST00000700199.1:n.69C>A
ENST00000700200.1:n.69C>A
ENST00000700201.1:c.-56C>A	ENSP00000514855.1:n.-56C>A
ENST00000380152.8:c.-56C>A MANE Select	ENSP00000369497.3:n.-56C>A
ENST00000544455.6:c.-40+506C>A	ENSP00000439902.1:n.-40+506C>A
ENST00000380152.7:c.-56C>A	ENSP00000369497.3:n.-56C>A
ENST00000530893.6:n.147C>A
ENST00000544455.5:c.-56C>A	ENSP00000439902.1:n.-56C>A
NM_000059.3:c.-56C>A , LRG_293t1:c.-56C>A	NP_000050.2:n.-56C>A
XM_011535203.1:c.-40+506C>A	XP_011533505.1:n.-40+506C>A
XM_011535204.1:c.-56C>A	XP_011533506.1:n.-56C>A
XM_011535205.1:c.-56C>A	XP_011533507.1:n.-56C>A
NM_000059.4:c.-56C>A MANE Select	NP_000050.3:n.-56C>A