Canonical Allele Identifier: CA387767097

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972575G>C (hg19) ; chr13:g.32398438G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398438G>C , CM000675.2:g.32398438G>C	GRCh38
NC_000013.10:g.32972575G>C , CM000675.1:g.32972575G>C	GRCh37
NC_000013.9:g.31870575G>C	NCBI36
NG_012772.3:g.87959G>C , LRG_293:g.87959G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*448G>C	ENSP00000434898.2:n.*448G>C
ENST00000528762.2:c.*1292G>C	ENSP00000433168.2:n.*1292G>C
ENST00000530893.7:c.9556G>C	ENSP00000499438.2:p.Glu3186Gln
ENST00000665585.2:c.*1487G>C	ENSP00000499570.2:n.*1487G>C
ENST00000700202.2:c.9874G>C	ENSP00000514856.2:p.Glu3292Gln
ENST00000700202.1:c.2341G>C	ENSP00000514856.1:p.Glu781Gln
ENST00000700203.1:n.2052G>C
ENST00000380152.8:c.9925G>C MANE Select	ENSP00000369497.3:p.Glu3309Gln
ENST00000544455.6:c.9925G>C	ENSP00000439902.1:p.Glu3309Gln
ENST00000614259.2:c.9933G>C	ENSP00000506251.1:n.9933G>C
ENST00000680887.1:c.9925G>C	ENSP00000505508.1:p.Glu3309Gln
ENST00000380152.7:c.9925G>C	ENSP00000369497.3:p.Glu3309Gln
ENST00000533776.1:n.513G>C
ENST00000544455.5:c.9925G>C	ENSP00000439902.1:p.Glu3309Gln
NM_000059.3:c.9925G>C , LRG_293t1:c.9925G>C	NP_000050.2:p.Glu3309Gln
XM_011535203.1:c.9925G>C	XP_011533505.1:p.Glu3309Gln
XM_011535204.1:c.9829G>C	XP_011533506.1:p.Glu3277Gln
NM_000059.4:c.9925G>C MANE Select	NP_000050.3:p.Glu3309Gln