Canonical Allele Identifier: CA025805

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52668
• ClinVar RCV Id: RCV000045614 ; RCV000131319 ; RCV000258465 ; RCV000521379
• dbSNP Id: rs397508007
• MyVariant Identifiers: chr13:g.32950931G>C (hg19) ; chr13:g.32376794G>C (hg38)
• PubMed: PMID:18597679 ; PMID:18693280 ; PMID:21638052 ; PMID:21769658 ; PMID:23451180

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376794G>C , CM000675.2:g.32376794G>C	GRCh38
NC_000013.10:g.32950931G>C , CM000675.1:g.32950931G>C	GRCh37
NC_000013.9:g.31848931G>C	NCBI36
NG_012772.3:g.66315G>C , LRG_293:g.66315G>C

Transcript Alleles

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