Canonical Allele Identifier: CA387765258

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137662816
• MyVariant Identifiers: chr13:g.32972332A>T (hg19) ; chr13:g.32398195A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398195A>T , CM000675.2:g.32398195A>T	GRCh38
NC_000013.10:g.32972332A>T , CM000675.1:g.32972332A>T	GRCh37
NC_000013.9:g.31870332A>T	NCBI36
NG_012772.3:g.87716A>T , LRG_293:g.87716A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*205A>T	ENSP00000434898.2:n.*205A>T
ENST00000528762.2:c.*1049A>T	ENSP00000433168.2:n.*1049A>T
ENST00000530893.7:c.9313A>T	ENSP00000499438.2:p.Ser3105Cys
ENST00000665585.2:c.*1244A>T	ENSP00000499570.2:n.*1244A>T
ENST00000700202.2:c.9631A>T	ENSP00000514856.2:p.Ser3211Cys
ENST00000700202.1:c.2098A>T	ENSP00000514856.1:p.Ser700Cys
ENST00000700203.1:n.1809A>T
ENST00000380152.8:c.9682A>T MANE Select	ENSP00000369497.3:p.Ser3228Cys
ENST00000544455.6:c.9682A>T	ENSP00000439902.1:p.Ser3228Cys
ENST00000614259.2:c.9690A>T	ENSP00000506251.1:n.9690A>T
ENST00000665585.1:c.2560A>T
ENST00000680887.1:c.9682A>T	ENSP00000505508.1:p.Ser3228Cys
ENST00000380152.7:c.9682A>T	ENSP00000369497.3:p.Ser3228Cys
ENST00000470094.1:c.765A>T
ENST00000533776.1:n.270A>T
ENST00000544455.5:c.9682A>T	ENSP00000439902.1:p.Ser3228Cys
NM_000059.3:c.9682A>T , LRG_293t1:c.9682A>T	NP_000050.2:p.Ser3228Cys
XM_011535203.1:c.9682A>T	XP_011533505.1:p.Ser3228Cys
XM_011535204.1:c.9586A>T	XP_011533506.1:p.Ser3196Cys
NM_000059.4:c.9682A>T MANE Select	NP_000050.3:p.Ser3228Cys