Canonical Allele Identifier: CA025743

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52640
• ClinVar RCV Id: RCV000576919 ; RCV001526913
• dbSNP Id: rs397507998
• MyVariant Identifiers: chr13:g.32945239T>G (hg19) ; chr13:g.32371102T>G (hg38)
• PubMed: PMID:20033483

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371102T>G , CM000675.2:g.32371102T>G	GRCh38
NC_000013.10:g.32945239T>G , CM000675.1:g.32945239T>G	GRCh37
NC_000013.9:g.31843239T>G	NCBI36
NG_012772.3:g.60623T>G , LRG_293:g.60623T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8632+2T>G	ENSP00000434898.2:n.8632+2T>G
ENST00000528762.2:c.8632+2T>G	ENSP00000433168.2:n.8632+2T>G
ENST00000530893.7:c.8263+2T>G	ENSP00000499438.2:n.8263+2T>G
ENST00000665585.2:c.8632+2T>G	ENSP00000499570.2:n.8632+2T>G
ENST00000666593.2:c.8632+2T>G	ENSP00000499256.2:n.8632+2T>G
ENST00000700202.2:c.8632+2T>G	ENSP00000514856.2:n.8632+2T>G
ENST00000700202.1:c.1099+2T>G	ENSP00000514856.1:n.1099+2T>G
ENST00000380152.8:c.8632+2T>G MANE Select	ENSP00000369497.3:n.8632+2T>G
ENST00000544455.6:c.8632+2T>G	ENSP00000439902.1:n.8632+2T>G
ENST00000614259.2:c.8640+2T>G	ENSP00000506251.1:n.8640+2T>G
ENST00000665585.1:c.1197+2T>G
ENST00000680887.1:c.8632+2T>G	ENSP00000505508.1:n.8632+2T>G
ENST00000380152.7:c.8632+2T>G	ENSP00000369497.3:n.8632+2T>G
ENST00000528762.1:c.130+2T>G	ENSP00000433168.1:n.130+2T>G
ENST00000544455.5:c.8632+2T>G	ENSP00000439902.1:n.8632+2T>G
NM_000059.3:c.8632+2T>G , LRG_293t1:c.8632+2T>G	NP_000050.2:n.8632+2T>G
XM_011535203.1:c.8632+2T>G	XP_011533505.1:n.8632+2T>G
XM_011535204.1:c.8536+2T>G	XP_011533506.1:n.8536+2T>G
XM_011535205.1:c.8632+2T>G	XP_011533507.1:n.8632+2T>G
NM_000059.4:c.8632+2T>G MANE Select	NP_000050.3:n.8632+2T>G