Canonical Allele Identifier: CA387756245

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32953544A>T (hg19) ; chr13:g.32379407A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379407A>T , CM000675.2:g.32379407A>T	GRCh38
NC_000013.10:g.32953544A>T , CM000675.1:g.32953544A>T	GRCh37
NC_000013.9:g.31851544A>T	NCBI36
NG_012772.3:g.68928A>T , LRG_293:g.68928A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8845A>T	ENSP00000434898.2:p.Arg2949Trp
ENST00000528762.2:c.*212A>T	ENSP00000433168.2:n.*212A>T
ENST00000530893.7:c.8476A>T	ENSP00000499438.2:p.Arg2826Trp
ENST00000665585.2:c.*407A>T	ENSP00000499570.2:n.*407A>T
ENST00000666593.2:c.8845A>T	ENSP00000499256.2:p.Arg2949Trp
ENST00000700202.2:c.8845A>T	ENSP00000514856.2:p.Arg2949Trp
ENST00000700202.1:c.1312A>T	ENSP00000514856.1:p.Arg438Trp
ENST00000700203.1:n.972A>T
ENST00000380152.8:c.8845A>T MANE Select	ENSP00000369497.3:p.Arg2949Trp
ENST00000544455.6:c.8845A>T	ENSP00000439902.1:p.Arg2949Trp
ENST00000614259.2:c.8853A>T	ENSP00000506251.1:n.8853A>T
ENST00000665585.1:c.1723A>T
ENST00000680887.1:c.8845A>T	ENSP00000505508.1:p.Arg2949Trp
ENST00000380152.7:c.8845A>T	ENSP00000369497.3:p.Arg2949Trp
ENST00000528762.1:c.407A>T	ENSP00000433168.1:n.407A>T
ENST00000544455.5:c.8845A>T	ENSP00000439902.1:p.Arg2949Trp
NM_000059.3:c.8845A>T , LRG_293t1:c.8845A>T	NP_000050.2:p.Arg2949Trp
XM_011535203.1:c.8845A>T	XP_011533505.1:p.Arg2949Trp
XM_011535204.1:c.8749A>T	XP_011533506.1:p.Arg2917Trp
XM_011535205.1:c.8755-343A>T	XP_011533507.1:n.8755-343A>T
NM_000059.4:c.8845A>T MANE Select	NP_000050.3:p.Arg2949Trp