Canonical Allele Identifier: CA387755103

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32950928G>C (hg19) ; chr13:g.32376791G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376791G>C , CM000675.2:g.32376791G>C	GRCh38
NC_000013.10:g.32950928G>C , CM000675.1:g.32950928G>C	GRCh37
NC_000013.9:g.31848928G>C	NCBI36
NG_012772.3:g.66312G>C , LRG_293:g.66312G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8754G>C	ENSP00000434898.2:p.Glu2918Asp
ENST00000528762.2:c.*121G>C	ENSP00000433168.2:n.*121G>C
ENST00000530893.7:c.8385G>C	ENSP00000499438.2:p.Glu2795Asp
ENST00000665585.2:c.*316G>C	ENSP00000499570.2:n.*316G>C
ENST00000666593.2:c.8754G>C	ENSP00000499256.2:p.Glu2918Asp
ENST00000700202.2:c.8754G>C	ENSP00000514856.2:p.Glu2918Asp
ENST00000700202.1:c.1221G>C	ENSP00000514856.1:p.Glu407Asp
ENST00000700203.1:n.881G>C
ENST00000380152.8:c.8754G>C MANE Select	ENSP00000369497.3:p.Glu2918Asp
ENST00000544455.6:c.8754G>C	ENSP00000439902.1:p.Glu2918Asp
ENST00000614259.2:c.8762G>C	ENSP00000506251.1:n.8762G>C
ENST00000665585.1:c.1632G>C
ENST00000680887.1:c.8754G>C	ENSP00000505508.1:p.Glu2918Asp
ENST00000380152.7:c.8754G>C	ENSP00000369497.3:p.Glu2918Asp
ENST00000528762.1:c.316G>C	ENSP00000433168.1:n.316G>C
ENST00000544455.5:c.8754G>C	ENSP00000439902.1:p.Glu2918Asp
NM_000059.3:c.8754G>C , LRG_293t1:c.8754G>C	NP_000050.2:p.Glu2918Asp
XM_011535203.1:c.8754G>C	XP_011533505.1:p.Glu2918Asp
XM_011535204.1:c.8658G>C	XP_011533506.1:p.Glu2886Asp
XM_011535205.1:c.8754G>C	XP_011533507.1:p.Glu2918Asp
NM_000059.4:c.8754G>C MANE Select	NP_000050.3:p.Glu2918Asp