Canonical Allele Identifier: CA387765684

Gene: BRCA2

Linked Data

• dbSNP Id: rs1466044420
• MyVariant Identifiers: chr13:g.32972401A>T (hg19) ; chr13:g.32398264A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398264A>T , CM000675.2:g.32398264A>T	GRCh38
NC_000013.10:g.32972401A>T , CM000675.1:g.32972401A>T	GRCh37
NC_000013.9:g.31870401A>T	NCBI36
NG_012772.3:g.87785A>T , LRG_293:g.87785A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*274A>T	ENSP00000434898.2:n.*274A>T
ENST00000528762.2:c.*1118A>T	ENSP00000433168.2:n.*1118A>T
ENST00000530893.7:c.9382A>T	ENSP00000499438.2:p.Lys3128Ter
ENST00000665585.2:c.*1313A>T	ENSP00000499570.2:n.*1313A>T
ENST00000700202.2:c.9700A>T	ENSP00000514856.2:p.Lys3234Ter
ENST00000700202.1:c.2167A>T	ENSP00000514856.1:p.Lys723Ter
ENST00000700203.1:n.1878A>T
ENST00000380152.8:c.9751A>T MANE Select	ENSP00000369497.3:p.Lys3251Ter
ENST00000544455.6:c.9751A>T	ENSP00000439902.1:p.Lys3251Ter
ENST00000614259.2:c.9759A>T	ENSP00000506251.1:n.9759A>T
ENST00000680887.1:c.9751A>T	ENSP00000505508.1:p.Lys3251Ter
ENST00000380152.7:c.9751A>T	ENSP00000369497.3:p.Lys3251Ter
ENST00000470094.1:c.834A>T
ENST00000533776.1:n.339A>T
ENST00000544455.5:c.9751A>T	ENSP00000439902.1:p.Lys3251Ter
NM_000059.3:c.9751A>T , LRG_293t1:c.9751A>T	NP_000050.2:p.Lys3251Ter
XM_011535203.1:c.9751A>T	XP_011533505.1:p.Lys3251Ter
XM_011535204.1:c.9655A>T	XP_011533506.1:p.Lys3219Ter
NM_000059.4:c.9751A>T MANE Select	NP_000050.3:p.Lys3251Ter