Canonical Allele Identifier: CA10602551

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267704
• ClinVar RCV Id: RCV000258328 ; RCV000430537 ; RCV000570219 ; RCV001380520 ; RCV002221522 ; RCV001572629
• dbSNP Id: rs397508006
• gnomAD v2: 13-32950929-G-T
• MyVariant Identifiers: chr13:g.32950929G>T (hg19) ; chr13:g.32376792G>T (hg38)
• PubMed: PMID:18597679

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376792G>T , CM000675.2:g.32376792G>T	GRCh38
NC_000013.10:g.32950929G>T , CM000675.1:g.32950929G>T	GRCh37
NC_000013.9:g.31848929G>T	NCBI36
NG_012772.3:g.66313G>T , LRG_293:g.66313G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8754+1G>T	ENSP00000434898.2:n.8754+1G>T
ENST00000528762.2:c.*121+1G>T	ENSP00000433168.2:n.*121+1G>T
ENST00000530893.7:c.8385+1G>T	ENSP00000499438.2:n.8385+1G>T
ENST00000665585.2:c.*316+1G>T	ENSP00000499570.2:n.*316+1G>T
ENST00000666593.2:c.8754+1G>T	ENSP00000499256.2:n.8754+1G>T
ENST00000700202.2:c.8754+1G>T	ENSP00000514856.2:n.8754+1G>T
ENST00000700202.1:c.1221+1G>T	ENSP00000514856.1:n.1221+1G>T
ENST00000700203.1:n.881+1G>T
ENST00000380152.8:c.8754+1G>T MANE Select	ENSP00000369497.3:n.8754+1G>T
ENST00000544455.6:c.8754+1G>T	ENSP00000439902.1:n.8754+1G>T
ENST00000614259.2:c.8762+1G>T	ENSP00000506251.1:n.8762+1G>T
ENST00000665585.1:c.1632+1G>T
ENST00000680887.1:c.8754+1G>T	ENSP00000505508.1:n.8754+1G>T
ENST00000380152.7:c.8754+1G>T	ENSP00000369497.3:n.8754+1G>T
ENST00000528762.1:c.316+1G>T	ENSP00000433168.1:n.316+1G>T
ENST00000544455.5:c.8754+1G>T	ENSP00000439902.1:n.8754+1G>T
NM_000059.3:c.8754+1G>T , LRG_293t1:c.8754+1G>T	NP_000050.2:n.8754+1G>T
XM_011535203.1:c.8754+1G>T	XP_011533505.1:n.8754+1G>T
XM_011535204.1:c.8658+1G>T	XP_011533506.1:n.8658+1G>T
XM_011535205.1:c.8754+1G>T	XP_011533507.1:n.8754+1G>T
NM_000059.4:c.8754+1G>T MANE Select	NP_000050.3:n.8754+1G>T