Canonical Allele Identifier: CA387757451

Gene: BRCA2

Linked Data

• dbSNP Id: rs80359152
• MyVariant Identifiers: chr13:g.32953937G>C (hg19) ; chr13:g.32379800G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379800G>C , CM000675.2:g.32379800G>C	GRCh38
NC_000013.10:g.32953937G>C , CM000675.1:g.32953937G>C	GRCh37
NC_000013.9:g.31851937G>C	NCBI36
NG_012772.3:g.69321G>C , LRG_293:g.69321G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9004G>C	ENSP00000434898.2:p.Glu3002Gln
ENST00000528762.2:c.*371G>C	ENSP00000433168.2:n.*371G>C
ENST00000530893.7:c.8635G>C	ENSP00000499438.2:p.Glu2879Gln
ENST00000665585.2:c.*566G>C	ENSP00000499570.2:n.*566G>C
ENST00000666593.2:c.9004G>C	ENSP00000499256.2:p.Glu3002Gln
ENST00000700202.2:c.8954-1G>C	ENSP00000514856.2:n.8954-1G>C
ENST00000700202.1:c.1421-1G>C	ENSP00000514856.1:n.1421-1G>C
ENST00000700203.1:n.1131G>C
ENST00000380152.8:c.9004G>C MANE Select	ENSP00000369497.3:p.Glu3002Gln
ENST00000544455.6:c.9004G>C	ENSP00000439902.1:p.Glu3002Gln
ENST00000614259.2:c.9012G>C	ENSP00000506251.1:n.9012G>C
ENST00000665585.1:c.1882G>C
ENST00000680887.1:c.9004G>C	ENSP00000505508.1:p.Glu3002Gln
ENST00000380152.7:c.9004G>C	ENSP00000369497.3:p.Glu3002Gln
ENST00000544455.5:c.9004G>C	ENSP00000439902.1:p.Glu3002Gln
NM_000059.3:c.9004G>C , LRG_293t1:c.9004G>C	NP_000050.2:p.Glu3002Gln
XM_011535203.1:c.9004G>C	XP_011533505.1:p.Glu3002Gln
XM_011535204.1:c.8908G>C	XP_011533506.1:p.Glu2970Gln
XM_011535205.1:c.*42G>C	XP_011533507.1:n.*42G>C
NM_000059.4:c.9004G>C MANE Select	NP_000050.3:p.Glu3002Gln