Canonical Allele Identifier: CA387766336

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137664198
• COSMIC: COSM5559301 ; COSM5559302
• MyVariant Identifiers: chr13:g.32972480T>C (hg19) ; chr13:g.32398343T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398343T>C , CM000675.2:g.32398343T>C	GRCh38
NC_000013.10:g.32972480T>C , CM000675.1:g.32972480T>C	GRCh37
NC_000013.9:g.31870480T>C	NCBI36
NG_012772.3:g.87864T>C , LRG_293:g.87864T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*353T>C	ENSP00000434898.2:n.*353T>C
ENST00000528762.2:c.*1197T>C	ENSP00000433168.2:n.*1197T>C
ENST00000530893.7:c.9461T>C	ENSP00000499438.2:p.Leu3154Pro
ENST00000665585.2:c.*1392T>C	ENSP00000499570.2:n.*1392T>C
ENST00000700202.2:c.9779T>C	ENSP00000514856.2:p.Leu3260Pro
ENST00000700202.1:c.2246T>C	ENSP00000514856.1:p.Leu749Pro
ENST00000700203.1:n.1957T>C
ENST00000380152.8:c.9830T>C MANE Select	ENSP00000369497.3:p.Leu3277Pro
ENST00000544455.6:c.9830T>C	ENSP00000439902.1:p.Leu3277Pro
ENST00000614259.2:c.9838T>C	ENSP00000506251.1:n.9838T>C
ENST00000680887.1:c.9830T>C	ENSP00000505508.1:p.Leu3277Pro
ENST00000380152.7:c.9830T>C	ENSP00000369497.3:p.Leu3277Pro
ENST00000533776.1:n.418T>C
ENST00000544455.5:c.9830T>C	ENSP00000439902.1:p.Leu3277Pro
NM_000059.3:c.9830T>C , LRG_293t1:c.9830T>C	NP_000050.2:p.Leu3277Pro
XM_011535203.1:c.9830T>C	XP_011533505.1:p.Leu3277Pro
XM_011535204.1:c.9734T>C	XP_011533506.1:p.Leu3245Pro
NM_000059.4:c.9830T>C MANE Select	NP_000050.3:p.Leu3277Pro