Canonical Allele Identifier: CA026208

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 188264
• ClinVar RCV Id: RCV000168240
• dbSNP Id: rs786204184
• MyVariant Identifiers: chr13:g.32971087A>C (hg19) ; chr13:g.32396950A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396950A>C , CM000675.2:g.32396950A>C	GRCh38
NC_000013.10:g.32971087A>C , CM000675.1:g.32971087A>C	GRCh37
NC_000013.9:g.31869087A>C	NCBI36
NG_012772.3:g.86471A>C , LRG_293:g.86471A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*77A>C	ENSP00000434898.2:n.*77A>C
ENST00000528762.2:c.*921A>C	ENSP00000433168.2:n.*921A>C
ENST00000530893.7:c.9185A>C	ENSP00000499438.2:p.His3062Pro
ENST00000665585.2:c.*1116A>C	ENSP00000499570.2:n.*1116A>C
ENST00000700202.2:c.9503A>C	ENSP00000514856.2:p.His3168Pro
ENST00000700202.1:c.1970A>C	ENSP00000514856.1:p.His657Pro
ENST00000700203.1:n.1681A>C
ENST00000380152.8:c.9554A>C MANE Select	ENSP00000369497.3:p.His3185Pro
ENST00000544455.6:c.9554A>C	ENSP00000439902.1:p.His3185Pro
ENST00000614259.2:c.9562A>C	ENSP00000506251.1:n.9562A>C
ENST00000665585.1:c.2432A>C
ENST00000680887.1:c.9554A>C	ENSP00000505508.1:p.His3185Pro
ENST00000380152.7:c.9554A>C	ENSP00000369497.3:p.His3185Pro
ENST00000470094.1:c.637A>C
ENST00000533776.1:n.142A>C
ENST00000544455.5:c.9554A>C	ENSP00000439902.1:p.His3185Pro
NM_000059.3:c.9554A>C , LRG_293t1:c.9554A>C	NP_000050.2:p.His3185Pro
XM_011535203.1:c.9554A>C	XP_011533505.1:p.His3185Pro
XM_011535204.1:c.9458A>C	XP_011533506.1:p.His3153Pro
NM_000059.4:c.9554A>C MANE Select	NP_000050.3:p.His3185Pro