Canonical Allele Identifier: CA025762

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 141100
• ClinVar RCV Id: RCV000129459 ; RCV000481920 ; RCV000689857
• dbSNP Id: rs587781494
• MyVariant Identifiers: chr13:g.32950825A>G (hg19) ; chr13:g.32376688A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376688A>G , CM000675.2:g.32376688A>G	GRCh38
NC_000013.10:g.32950825A>G , CM000675.1:g.32950825A>G	GRCh37
NC_000013.9:g.31848825A>G	NCBI36
NG_012772.3:g.66209A>G , LRG_293:g.66209A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8651A>G	ENSP00000434898.2:p.Tyr2884Cys
ENST00000528762.2:c.*18A>G	ENSP00000433168.2:n.*18A>G
ENST00000530893.7:c.8282A>G	ENSP00000499438.2:p.Tyr2761Cys
ENST00000665585.2:c.*213A>G	ENSP00000499570.2:n.*213A>G
ENST00000666593.2:c.8651A>G	ENSP00000499256.2:p.Tyr2884Cys
ENST00000700202.2:c.8651A>G	ENSP00000514856.2:p.Tyr2884Cys
ENST00000700202.1:c.1118A>G	ENSP00000514856.1:p.Tyr373Cys
ENST00000700203.1:n.778A>G
ENST00000380152.8:c.8651A>G MANE Select	ENSP00000369497.3:p.Tyr2884Cys
ENST00000544455.6:c.8651A>G	ENSP00000439902.1:p.Tyr2884Cys
ENST00000614259.2:c.8659A>G	ENSP00000506251.1:n.8659A>G
ENST00000665585.1:c.1529A>G
ENST00000680887.1:c.8651A>G	ENSP00000505508.1:p.Tyr2884Cys
ENST00000380152.7:c.8651A>G	ENSP00000369497.3:p.Tyr2884Cys
ENST00000528762.1:c.213A>G	ENSP00000433168.1:n.213A>G
ENST00000544455.5:c.8651A>G	ENSP00000439902.1:p.Tyr2884Cys
NM_000059.3:c.8651A>G , LRG_293t1:c.8651A>G	NP_000050.2:p.Tyr2884Cys
XM_011535203.1:c.8651A>G	XP_011533505.1:p.Tyr2884Cys
XM_011535204.1:c.8555A>G	XP_011533506.1:p.Tyr2852Cys
XM_011535205.1:c.8651A>G	XP_011533507.1:p.Tyr2884Cys
NM_000059.4:c.8651A>G MANE Select	NP_000050.3:p.Tyr2884Cys