Canonical Allele Identifier: CA658656330

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 483132
• ClinVar RCV Id: RCV000561990
• dbSNP Id: rs1555284649

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340710_32340712delinsT , CM000675.2:g.32340710_32340712delinsT	GRCh38
NC_000013.10:g.32914847_32914849delinsT , CM000675.1:g.32914847_32914849delinsT	GRCh37
NC_000013.9:g.31812847_31812849delinsT	NCBI36
NG_012772.3:g.30231_30233delinsT , LRG_293:g.30231_30233delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.6355_6357delinsT	ENSP00000434898.2:p.Asn2119PhefsTer9
ENST00000528762.2:c.6355_6357delinsT	ENSP00000433168.2:p.Asn2119PhefsTer9
ENST00000530893.7:c.5986_5988delinsT	ENSP00000499438.2:p.Asn1996PhefsTer9
ENST00000665585.2:c.6355_6357delinsT	ENSP00000499570.2:p.Asn2119PhefsTer9
ENST00000666593.2:c.6355_6357delinsT	ENSP00000499256.2:p.Asn2119PhefsTer9
ENST00000700202.2:c.6355_6357delinsT	ENSP00000514856.2:p.Asn2119PhefsTer9
ENST00000380152.8:c.6355_6357delinsT MANE Select	ENSP00000369497.3:p.Asn2119PhefsTer9
ENST00000544455.6:c.6355_6357delinsT	ENSP00000439902.1:p.Asn2119PhefsTer9
ENST00000614259.2:c.6355_6357delinsT	ENSP00000506251.1:p.Asn2119PhefsTer9
ENST00000680887.1:c.6355_6357delinsT	ENSP00000505508.1:p.Asn2119PhefsTer9
ENST00000380152.7:c.6355_6357delinsT	ENSP00000369497.3:p.Asn2119PhefsTer9
ENST00000544455.5:c.6355_6357delinsT	ENSP00000439902.1:p.Asn2119PhefsTer9
ENST00000614259.1:n.6355_6357delinsT
NM_000059.3:c.6355_6357delinsT , LRG_293t1:c.6355_6357delinsT	NP_000050.2:p.Asn2119PhefsTer9
XM_011535203.1:c.6355_6357delinsT	XP_011533505.1:p.Asn2119PhefsTer9
XM_011535204.1:c.6355_6357delinsT	XP_011533506.1:p.Asn2119PhefsTer9
XM_011535205.1:c.6355_6357delinsT	XP_011533507.1:p.Asn2119PhefsTer9
NM_000059.4:c.6355_6357delinsT MANE Select	NP_000050.3:p.Asn2119PhefsTer9