Canonical Allele Identifier: CA387757487

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32953956T>C (hg19) ; chr13:g.32379819T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379819T>C , CM000675.2:g.32379819T>C	GRCh38
NC_000013.10:g.32953956T>C , CM000675.1:g.32953956T>C	GRCh37
NC_000013.9:g.31851956T>C	NCBI36
NG_012772.3:g.69340T>C , LRG_293:g.69340T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9023T>C	ENSP00000434898.2:p.Ile3008Thr
ENST00000528762.2:c.*390T>C	ENSP00000433168.2:n.*390T>C
ENST00000530893.7:c.8654T>C	ENSP00000499438.2:p.Ile2885Thr
ENST00000665585.2:c.*585T>C	ENSP00000499570.2:n.*585T>C
ENST00000666593.2:c.9023T>C	ENSP00000499256.2:p.Ile3008Thr
ENST00000700202.2:c.8972T>C	ENSP00000514856.2:p.Ile2991Thr
ENST00000700202.1:c.1439T>C	ENSP00000514856.1:p.Ile480Thr
ENST00000700203.1:n.1150T>C
ENST00000380152.8:c.9023T>C MANE Select	ENSP00000369497.3:p.Ile3008Thr
ENST00000544455.6:c.9023T>C	ENSP00000439902.1:p.Ile3008Thr
ENST00000614259.2:c.9031T>C	ENSP00000506251.1:n.9031T>C
ENST00000665585.1:c.1901T>C
ENST00000680887.1:c.9023T>C	ENSP00000505508.1:p.Ile3008Thr
ENST00000380152.7:c.9023T>C	ENSP00000369497.3:p.Ile3008Thr
ENST00000544455.5:c.9023T>C	ENSP00000439902.1:p.Ile3008Thr
NM_000059.3:c.9023T>C , LRG_293t1:c.9023T>C	NP_000050.2:p.Ile3008Thr
XM_011535203.1:c.9023T>C	XP_011533505.1:p.Ile3008Thr
XM_011535204.1:c.8927T>C	XP_011533506.1:p.Ile2976Thr
XM_011535205.1:c.*61T>C	XP_011533507.1:n.*61T>C
NM_000059.4:c.9023T>C MANE Select	NP_000050.3:p.Ile3008Thr