Canonical Allele Identifier: CA2697551744

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2710280
• ClinVar RCV Id: RCV003530605

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333332_32333333delinsAG , CM000675.2:g.32333332_32333333delinsAG	GRCh38
NC_000013.10:g.32907469_32907470delinsAG , CM000675.1:g.32907469_32907470delinsAG	GRCh37
NC_000013.9:g.31805469_31805470delinsAG	NCBI36
NG_012772.3:g.22853_22854delinsAG , LRG_293:g.22853_22854delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1854_1855delinsAG	ENSP00000434898.2:p.Gln619Glu
ENST00000528762.2:c.1854_1855delinsAG	ENSP00000433168.2:p.Gln619Glu
ENST00000530893.7:c.1485_1486delinsAG	ENSP00000499438.2:p.Gln496Glu
ENST00000665585.2:c.1854_1855delinsAG	ENSP00000499570.2:p.Gln619Glu
ENST00000666593.2:c.1854_1855delinsAG	ENSP00000499256.2:p.Gln619Glu
ENST00000700202.2:c.1854_1855delinsAG	ENSP00000514856.2:p.Gln619Glu
ENST00000380152.8:c.1854_1855delinsAG MANE Select	ENSP00000369497.3:p.Gln619Glu
ENST00000544455.6:c.1854_1855delinsAG	ENSP00000439902.1:p.Gln619Glu
ENST00000614259.2:c.1854_1855delinsAG	ENSP00000506251.1:p.Gln619Glu
ENST00000680887.1:c.1854_1855delinsAG	ENSP00000505508.1:p.Gln619Glu
ENST00000380152.7:c.1854_1855delinsAG	ENSP00000369497.3:p.Gln619Glu
ENST00000544455.5:c.1854_1855delinsAG	ENSP00000439902.1:p.Gln619Glu
ENST00000614259.1:n.1854_1855delinsAG
NM_000059.3:c.1854_1855delinsAG , LRG_293t1:c.1854_1855delinsAG	NP_000050.2:p.Gln619Glu
XM_011535203.1:c.1854_1855delinsAG	XP_011533505.1:p.Gln619Glu
XM_011535204.1:c.1854_1855delinsAG	XP_011533506.1:p.Gln619Glu
XM_011535205.1:c.1854_1855delinsAG	XP_011533507.1:p.Gln619Glu
NM_000059.4:c.1854_1855delinsAG MANE Select	NP_000050.3:p.Gln619Glu