Canonical Allele Identifier: CA387755787

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32953467A>C (hg19) ; chr13:g.32379330A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379330A>C , CM000675.2:g.32379330A>C	GRCh38
NC_000013.10:g.32953467A>C , CM000675.1:g.32953467A>C	GRCh37
NC_000013.9:g.31851467A>C	NCBI36
NG_012772.3:g.68851A>C , LRG_293:g.68851A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8768A>C	ENSP00000434898.2:p.Glu2923Ala
ENST00000528762.2:c.*135A>C	ENSP00000433168.2:n.*135A>C
ENST00000530893.7:c.8399A>C	ENSP00000499438.2:p.Glu2800Ala
ENST00000665585.2:c.*330A>C	ENSP00000499570.2:n.*330A>C
ENST00000666593.2:c.8768A>C	ENSP00000499256.2:p.Glu2923Ala
ENST00000700202.2:c.8768A>C	ENSP00000514856.2:p.Glu2923Ala
ENST00000700202.1:c.1235A>C	ENSP00000514856.1:p.Glu412Ala
ENST00000700203.1:n.895A>C
ENST00000380152.8:c.8768A>C MANE Select	ENSP00000369497.3:p.Glu2923Ala
ENST00000544455.6:c.8768A>C	ENSP00000439902.1:p.Glu2923Ala
ENST00000614259.2:c.8776A>C	ENSP00000506251.1:n.8776A>C
ENST00000665585.1:c.1646A>C
ENST00000680887.1:c.8768A>C	ENSP00000505508.1:p.Glu2923Ala
ENST00000380152.7:c.8768A>C	ENSP00000369497.3:p.Glu2923Ala
ENST00000528762.1:c.330A>C	ENSP00000433168.1:n.330A>C
ENST00000544455.5:c.8768A>C	ENSP00000439902.1:p.Glu2923Ala
NM_000059.3:c.8768A>C , LRG_293t1:c.8768A>C	NP_000050.2:p.Glu2923Ala
XM_011535203.1:c.8768A>C	XP_011533505.1:p.Glu2923Ala
XM_011535204.1:c.8672A>C	XP_011533506.1:p.Glu2891Ala
XM_011535205.1:c.8755-420A>C	XP_011533507.1:n.8755-420A>C
NM_000059.4:c.8768A>C MANE Select	NP_000050.3:p.Glu2923Ala