Canonical Allele Identifier: CA483439842

Gene: BRCA2

Linked Data

• dbSNP Id: rs80359154
• MyVariant Identifiers: chr13:g.32953951C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379814C>T , CM000675.2:g.32379814C>T	GRCh38
NC_000013.10:g.32953951C>T , CM000675.1:g.32953951C>T	GRCh37
NC_000013.9:g.31851951C>T	NCBI36
NG_012772.3:g.69335C>T , LRG_293:g.69335C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9018C>T	ENSP00000434898.2:p.Tyr3006=
ENST00000528762.2:c.*385C>T	ENSP00000433168.2:n.*385C>T
ENST00000530893.7:c.8649C>T	ENSP00000499438.2:p.Tyr2883=
ENST00000665585.2:c.*580C>T	ENSP00000499570.2:n.*580C>T
ENST00000666593.2:c.9018C>T	ENSP00000499256.2:p.Tyr3006=
ENST00000700202.2:c.8967C>T	ENSP00000514856.2:p.Tyr2989=
ENST00000700202.1:c.1434C>T	ENSP00000514856.1:p.Tyr478=
ENST00000700203.1:n.1145C>T
ENST00000380152.8:c.9018C>T MANE Select	ENSP00000369497.3:p.Tyr3006=
ENST00000544455.6:c.9018C>T	ENSP00000439902.1:p.Tyr3006=
ENST00000614259.2:c.9026C>T	ENSP00000506251.1:n.9026C>T
ENST00000665585.1:c.1896C>T
ENST00000680887.1:c.9018C>T	ENSP00000505508.1:p.Tyr3006=
ENST00000380152.7:c.9018C>T	ENSP00000369497.3:p.Tyr3006=
ENST00000544455.5:c.9018C>T	ENSP00000439902.1:p.Tyr3006=
NM_000059.3:c.9018C>T , LRG_293t1:c.9018C>T	NP_000050.2:p.Tyr3006=
XM_011535203.1:c.9018C>T	XP_011533505.1:p.Tyr3006=
XM_011535204.1:c.8922C>T	XP_011533506.1:p.Tyr2974=
XM_011535205.1:c.*56C>T	XP_011533507.1:n.*56C>T
NM_000059.4:c.9018C>T MANE Select	NP_000050.3:p.Tyr3006=