Canonical Allele Identifier: CA387760865

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 481559
• ClinVar RCV Id: RCV002483527 ; RCV002526824
• dbSNP Id: rs1555289516
• MyVariant Identifiers: chr13:g.32968864A>G (hg19) ; chr13:g.32394727A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394727A>G , CM000675.2:g.32394727A>G	GRCh38
NC_000013.10:g.32968864A>G , CM000675.1:g.32968864A>G	GRCh37
NC_000013.9:g.31866864A>G	NCBI36
NG_012772.3:g.84248A>G , LRG_293:g.84248A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9295A>G	ENSP00000434898.2:p.Asn3099Asp
ENST00000528762.2:c.*662A>G	ENSP00000433168.2:n.*662A>G
ENST00000530893.7:c.8926A>G	ENSP00000499438.2:p.Asn2976Asp
ENST00000665585.2:c.*857A>G	ENSP00000499570.2:n.*857A>G
ENST00000666593.2:c.*140A>G	ENSP00000499256.2:n.*140A>G
ENST00000700202.2:c.9244A>G	ENSP00000514856.2:p.Asn3082Asp
ENST00000700202.1:c.1711A>G	ENSP00000514856.1:p.Asn571Asp
ENST00000700203.1:n.1422A>G
ENST00000380152.8:c.9295A>G MANE Select	ENSP00000369497.3:p.Asn3099Asp
ENST00000544455.6:c.9295A>G	ENSP00000439902.1:p.Asn3099Asp
ENST00000614259.2:c.9303A>G	ENSP00000506251.1:n.9303A>G
ENST00000665585.1:c.2173A>G
ENST00000666593.1:c.317A>G	ENSP00000499256.1:n.317A>G
ENST00000680887.1:c.9295A>G	ENSP00000505508.1:p.Asn3099Asp
ENST00000380152.7:c.9295A>G	ENSP00000369497.3:p.Asn3099Asp
ENST00000470094.1:c.252A>G
ENST00000544455.5:c.9295A>G	ENSP00000439902.1:p.Asn3099Asp
NM_000059.3:c.9295A>G , LRG_293t1:c.9295A>G	NP_000050.2:p.Asn3099Asp
XM_011535203.1:c.9295A>G	XP_011533505.1:p.Asn3099Asp
XM_011535204.1:c.9199A>G	XP_011533506.1:p.Asn3067Asp
NM_000059.4:c.9295A>G MANE Select	NP_000050.3:p.Asn3099Asp