Canonical Allele Identifier: CA658656404

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 485419
• ClinVar RCV Id: RCV000571638 ; RCV000657470
• dbSNP Id: rs1555284407

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340162_32340171delinsGTC , CM000675.2:g.32340162_32340171delinsGTC	GRCh38
NC_000013.10:g.32914299_32914308delinsGTC , CM000675.1:g.32914299_32914308delinsGTC	GRCh37
NC_000013.9:g.31812299_31812308delinsGTC	NCBI36
NG_012772.3:g.29683_29692delinsGTC , LRG_293:g.29683_29692delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5807_5816delinsGTC	ENSP00000434898.2:p.Met1936SerfsTer25
ENST00000528762.2:c.5807_5816delinsGTC	ENSP00000433168.2:p.Met1936SerfsTer25
ENST00000530893.7:c.5438_5447delinsGTC	ENSP00000499438.2:p.Met1813SerfsTer25
ENST00000665585.2:c.5807_5816delinsGTC	ENSP00000499570.2:p.Met1936SerfsTer25
ENST00000666593.2:c.5807_5816delinsGTC	ENSP00000499256.2:p.Met1936SerfsTer25
ENST00000700202.2:c.5807_5816delinsGTC	ENSP00000514856.2:p.Met1936SerfsTer25
ENST00000380152.8:c.5807_5816delinsGTC MANE Select	ENSP00000369497.3:p.Met1936SerfsTer25
ENST00000544455.6:c.5807_5816delinsGTC	ENSP00000439902.1:p.Met1936SerfsTer25
ENST00000614259.2:c.5807_5816delinsGTC	ENSP00000506251.1:p.Met1936SerfsTer25
ENST00000680887.1:c.5807_5816delinsGTC	ENSP00000505508.1:p.Met1936SerfsTer25
ENST00000380152.7:c.5807_5816delinsGTC	ENSP00000369497.3:p.Met1936SerfsTer25
ENST00000544455.5:c.5807_5816delinsGTC	ENSP00000439902.1:p.Met1936SerfsTer25
ENST00000614259.1:n.5807_5816delinsGTC
NM_000059.3:c.5807_5816delinsGTC , LRG_293t1:c.5807_5816delinsGTC	NP_000050.2:p.Met1936SerfsTer25
XM_011535203.1:c.5807_5816delinsGTC	XP_011533505.1:p.Met1936SerfsTer25
XM_011535204.1:c.5807_5816delinsGTC	XP_011533506.1:p.Met1936SerfsTer25
XM_011535205.1:c.5807_5816delinsGTC	XP_011533507.1:p.Met1936SerfsTer25
NM_000059.4:c.5807_5816delinsGTC MANE Select	NP_000050.3:p.Met1936SerfsTer25