Canonical Allele Identifier: CA387760919

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 481612
• ClinVar RCV Id: RCV000574188 ; RCV001064553
• dbSNP Id: rs1555289521
• MyVariant Identifiers: chr13:g.32968879A>T (hg19) ; chr13:g.32394742A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394742A>T , CM000675.2:g.32394742A>T	GRCh38
NC_000013.10:g.32968879A>T , CM000675.1:g.32968879A>T	GRCh37
NC_000013.9:g.31866879A>T	NCBI36
NG_012772.3:g.84263A>T , LRG_293:g.84263A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9310A>T	ENSP00000434898.2:p.Lys3104Ter
ENST00000528762.2:c.*677A>T	ENSP00000433168.2:n.*677A>T
ENST00000530893.7:c.8941A>T	ENSP00000499438.2:p.Lys2981Ter
ENST00000665585.2:c.*872A>T	ENSP00000499570.2:n.*872A>T
ENST00000666593.2:c.*155A>T	ENSP00000499256.2:n.*155A>T
ENST00000700202.2:c.9259A>T	ENSP00000514856.2:p.Lys3087Ter
ENST00000700202.1:c.1726A>T	ENSP00000514856.1:p.Lys576Ter
ENST00000700203.1:n.1437A>T
ENST00000380152.8:c.9310A>T MANE Select	ENSP00000369497.3:p.Lys3104Ter
ENST00000544455.6:c.9310A>T	ENSP00000439902.1:p.Lys3104Ter
ENST00000614259.2:c.9318A>T	ENSP00000506251.1:n.9318A>T
ENST00000665585.1:c.2188A>T
ENST00000666593.1:c.332A>T	ENSP00000499256.1:n.332A>T
ENST00000680887.1:c.9310A>T	ENSP00000505508.1:p.Lys3104Ter
ENST00000380152.7:c.9310A>T	ENSP00000369497.3:p.Lys3104Ter
ENST00000470094.1:c.267A>T
ENST00000544455.5:c.9310A>T	ENSP00000439902.1:p.Lys3104Ter
NM_000059.3:c.9310A>T , LRG_293t1:c.9310A>T	NP_000050.2:p.Lys3104Ter
XM_011535203.1:c.9310A>T	XP_011533505.1:p.Lys3104Ter
XM_011535204.1:c.9214A>T	XP_011533506.1:p.Lys3072Ter
NM_000059.4:c.9310A>T MANE Select	NP_000050.3:p.Lys3104Ter