Canonical Allele Identifier: CA387767616

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137665598
• COSMIC: COSM1727908 ; COSM1727909
• MyVariant Identifiers: chr13:g.32972642T>C (hg19) ; chr13:g.32398505T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398505T>C , CM000675.2:g.32398505T>C	GRCh38
NC_000013.10:g.32972642T>C , CM000675.1:g.32972642T>C	GRCh37
NC_000013.9:g.31870642T>C	NCBI36
NG_012772.3:g.88026T>C , LRG_293:g.88026T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*515T>C	ENSP00000434898.2:n.*515T>C
ENST00000528762.2:c.*1359T>C	ENSP00000433168.2:n.*1359T>C
ENST00000530893.7:c.9623T>C	ENSP00000499438.2:p.Ile3208Thr
ENST00000665585.2:c.*1554T>C	ENSP00000499570.2:n.*1554T>C
ENST00000700202.2:c.9941T>C	ENSP00000514856.2:p.Ile3314Thr
ENST00000700202.1:c.2408T>C	ENSP00000514856.1:p.Ile803Thr
ENST00000700203.1:n.2119T>C
ENST00000380152.8:c.9992T>C MANE Select	ENSP00000369497.3:p.Ile3331Thr
ENST00000544455.6:c.9992T>C	ENSP00000439902.1:p.Ile3331Thr
ENST00000614259.2:c.10000T>C	ENSP00000506251.1:n.10000T>C
ENST00000680887.1:c.9992T>C	ENSP00000505508.1:p.Ile3331Thr
ENST00000380152.7:c.9992T>C	ENSP00000369497.3:p.Ile3331Thr
ENST00000544455.5:c.9992T>C	ENSP00000439902.1:p.Ile3331Thr
NM_000059.3:c.9992T>C , LRG_293t1:c.9992T>C	NP_000050.2:p.Ile3331Thr
XM_011535203.1:c.9992T>C	XP_011533505.1:p.Ile3331Thr
XM_011535204.1:c.9896T>C	XP_011533506.1:p.Ile3299Thr
NM_000059.4:c.9992T>C MANE Select	NP_000050.3:p.Ile3331Thr