Canonical Allele Identifier: CA010245

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 191041
• ClinVar RCV Id: RCV000171217 ; RCV000726705 ; RCV001016988 ; RCV001372516 ; RCV003316073
• dbSNP Id: rs786205482
• gnomAD v3: 13-32398615-T-C
• COSMIC: COSM5970964 ; COSM5970965
• MyVariant Identifiers: chr13:g.32972752T>C (hg19) ; chr13:g.32398615T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398615T>C , CM000675.2:g.32398615T>C	GRCh38
NC_000013.10:g.32972752T>C , CM000675.1:g.32972752T>C	GRCh37
NC_000013.9:g.31870752T>C	NCBI36
NG_012772.3:g.88136T>C , LRG_293:g.88136T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*625T>C	ENSP00000434898.2:n.*625T>C
ENST00000528762.2:c.*1469T>C	ENSP00000433168.2:n.*1469T>C
ENST00000530893.7:c.9733T>C	ENSP00000499438.2:p.Ser3245Pro
ENST00000665585.2:c.*1664T>C	ENSP00000499570.2:n.*1664T>C
ENST00000700202.2:c.10051T>C	ENSP00000514856.2:p.Ser3351Pro
ENST00000700202.1:c.2518T>C	ENSP00000514856.1:p.Ser840Pro
ENST00000700203.1:n.2229T>C
ENST00000380152.8:c.10102T>C MANE Select	ENSP00000369497.3:p.Ser3368Pro
ENST00000544455.6:c.10102T>C	ENSP00000439902.1:p.Ser3368Pro
ENST00000614259.2:c.10110T>C	ENSP00000506251.1:n.10110T>C
ENST00000680887.1:c.10102T>C	ENSP00000505508.1:p.Ser3368Pro
ENST00000380152.7:c.10102T>C	ENSP00000369497.3:p.Ser3368Pro
ENST00000544455.5:c.10102T>C	ENSP00000439902.1:p.Ser3368Pro
NM_000059.3:c.10102T>C , LRG_293t1:c.10102T>C	NP_000050.2:p.Ser3368Pro
XM_011535203.1:c.10102T>C	XP_011533505.1:p.Ser3368Pro
XM_011535204.1:c.10006T>C	XP_011533506.1:p.Ser3336Pro
NM_000059.4:c.10102T>C MANE Select	NP_000050.3:p.Ser3368Pro