Canonical Allele Identifier: CA483439696

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1587696
• ClinVar RCV Id: RCV002116828
• dbSNP Id: rs2137620652
• MyVariant Identifiers: chr13:g.32953639A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379502A>G , CM000675.2:g.32379502A>G	GRCh38
NC_000013.10:g.32953639A>G , CM000675.1:g.32953639A>G	GRCh37
NC_000013.9:g.31851639A>G	NCBI36
NG_012772.3:g.69023A>G , LRG_293:g.69023A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8940A>G	ENSP00000434898.2:p.Lys2980=
ENST00000528762.2:c.*307A>G	ENSP00000433168.2:n.*307A>G
ENST00000530893.7:c.8571A>G	ENSP00000499438.2:p.Lys2857=
ENST00000665585.2:c.*502A>G	ENSP00000499570.2:n.*502A>G
ENST00000666593.2:c.8940A>G	ENSP00000499256.2:p.Lys2980=
ENST00000700202.2:c.8940A>G	ENSP00000514856.2:p.Lys2980=
ENST00000700202.1:c.1407A>G	ENSP00000514856.1:p.Lys469=
ENST00000700203.1:n.1067A>G
ENST00000380152.8:c.8940A>G MANE Select	ENSP00000369497.3:p.Lys2980=
ENST00000544455.6:c.8940A>G	ENSP00000439902.1:p.Lys2980=
ENST00000614259.2:c.8948A>G	ENSP00000506251.1:n.8948A>G
ENST00000665585.1:c.1818A>G
ENST00000680887.1:c.8940A>G	ENSP00000505508.1:p.Lys2980=
ENST00000380152.7:c.8940A>G	ENSP00000369497.3:p.Lys2980=
ENST00000544455.5:c.8940A>G	ENSP00000439902.1:p.Lys2980=
NM_000059.3:c.8940A>G , LRG_293t1:c.8940A>G	NP_000050.2:p.Lys2980=
XM_011535203.1:c.8940A>G	XP_011533505.1:p.Lys2980=
XM_011535204.1:c.8844A>G	XP_011533506.1:p.Lys2948=
XM_011535205.1:c.8755-248A>G	XP_011533507.1:n.8755-248A>G
NM_000059.4:c.8940A>G MANE Select	NP_000050.3:p.Lys2980=