Canonical Allele Identifier: CA387754930

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137613203
• MyVariant Identifiers: chr13:g.32950890G>C (hg19) ; chr13:g.32376753G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376753G>C , CM000675.2:g.32376753G>C	GRCh38
NC_000013.10:g.32950890G>C , CM000675.1:g.32950890G>C	GRCh37
NC_000013.9:g.31848890G>C	NCBI36
NG_012772.3:g.66274G>C , LRG_293:g.66274G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8716G>C	ENSP00000434898.2:p.Glu2906Gln
ENST00000528762.2:c.*83G>C	ENSP00000433168.2:n.*83G>C
ENST00000530893.7:c.8347G>C	ENSP00000499438.2:p.Glu2783Gln
ENST00000665585.2:c.*278G>C	ENSP00000499570.2:n.*278G>C
ENST00000666593.2:c.8716G>C	ENSP00000499256.2:p.Glu2906Gln
ENST00000700202.2:c.8716G>C	ENSP00000514856.2:p.Glu2906Gln
ENST00000700202.1:c.1183G>C	ENSP00000514856.1:p.Glu395Gln
ENST00000700203.1:n.843G>C
ENST00000380152.8:c.8716G>C MANE Select	ENSP00000369497.3:p.Glu2906Gln
ENST00000544455.6:c.8716G>C	ENSP00000439902.1:p.Glu2906Gln
ENST00000614259.2:c.8724G>C	ENSP00000506251.1:n.8724G>C
ENST00000665585.1:c.1594G>C
ENST00000680887.1:c.8716G>C	ENSP00000505508.1:p.Glu2906Gln
ENST00000380152.7:c.8716G>C	ENSP00000369497.3:p.Glu2906Gln
ENST00000528762.1:c.278G>C	ENSP00000433168.1:n.278G>C
ENST00000544455.5:c.8716G>C	ENSP00000439902.1:p.Glu2906Gln
NM_000059.3:c.8716G>C , LRG_293t1:c.8716G>C	NP_000050.2:p.Glu2906Gln
XM_011535203.1:c.8716G>C	XP_011533505.1:p.Glu2906Gln
XM_011535204.1:c.8620G>C	XP_011533506.1:p.Glu2874Gln
XM_011535205.1:c.8716G>C	XP_011533507.1:p.Glu2906Gln
NM_000059.4:c.8716G>C MANE Select	NP_000050.3:p.Glu2906Gln