Canonical Allele Identifier: CA387756402

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137620023
• MyVariant Identifiers: chr13:g.32953572A>T (hg19) ; chr13:g.32379435A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379435A>T , CM000675.2:g.32379435A>T	GRCh38
NC_000013.10:g.32953572A>T , CM000675.1:g.32953572A>T	GRCh37
NC_000013.9:g.31851572A>T	NCBI36
NG_012772.3:g.68956A>T , LRG_293:g.68956A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8873A>T	ENSP00000434898.2:p.Lys2958Met
ENST00000528762.2:c.*240A>T	ENSP00000433168.2:n.*240A>T
ENST00000530893.7:c.8504A>T	ENSP00000499438.2:p.Lys2835Met
ENST00000665585.2:c.*435A>T	ENSP00000499570.2:n.*435A>T
ENST00000666593.2:c.8873A>T	ENSP00000499256.2:p.Lys2958Met
ENST00000700202.2:c.8873A>T	ENSP00000514856.2:p.Lys2958Met
ENST00000700202.1:c.1340A>T	ENSP00000514856.1:p.Lys447Met
ENST00000700203.1:n.1000A>T
ENST00000380152.8:c.8873A>T MANE Select	ENSP00000369497.3:p.Lys2958Met
ENST00000544455.6:c.8873A>T	ENSP00000439902.1:p.Lys2958Met
ENST00000614259.2:c.8881A>T	ENSP00000506251.1:n.8881A>T
ENST00000665585.1:c.1751A>T
ENST00000680887.1:c.8873A>T	ENSP00000505508.1:p.Lys2958Met
ENST00000380152.7:c.8873A>T	ENSP00000369497.3:p.Lys2958Met
ENST00000528762.1:c.435A>T	ENSP00000433168.1:n.435A>T
ENST00000544455.5:c.8873A>T	ENSP00000439902.1:p.Lys2958Met
NM_000059.3:c.8873A>T , LRG_293t1:c.8873A>T	NP_000050.2:p.Lys2958Met
XM_011535203.1:c.8873A>T	XP_011533505.1:p.Lys2958Met
XM_011535204.1:c.8777A>T	XP_011533506.1:p.Lys2926Met
XM_011535205.1:c.8755-315A>T	XP_011533507.1:n.8755-315A>T
NM_000059.4:c.8873A>T MANE Select	NP_000050.3:p.Lys2958Met