Canonical Allele Identifier: CA2825002127

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 3073868
• ClinVar RCV Id: RCV004012410

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337774_32337776del , CM000675.2:g.32337774_32337776del	GRCh38
NC_000013.10:g.32911911_32911913del , CM000675.1:g.32911911_32911913del	GRCh37
NC_000013.9:g.31809911_31809913del	NCBI36
NG_012772.3:g.27295_27297del , LRG_293:g.27295_27297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3419_3421del	ENSP00000434898.2:p.Ser1140del
ENST00000528762.2:c.3419_3421del	ENSP00000433168.2:p.Ser1140del
ENST00000530893.7:c.3050_3052del	ENSP00000499438.2:p.Ser1017del
ENST00000665585.2:c.3419_3421del	ENSP00000499570.2:p.Ser1140del
ENST00000666593.2:c.3419_3421del	ENSP00000499256.2:p.Ser1140del
ENST00000700202.2:c.3419_3421del	ENSP00000514856.2:p.Ser1140del
ENST00000380152.8:c.3419_3421del MANE Select	ENSP00000369497.3:p.Ser1140del
ENST00000544455.6:c.3419_3421del	ENSP00000439902.1:p.Ser1140del
ENST00000614259.2:c.3419_3421del	ENSP00000506251.1:p.Ser1140del
ENST00000680887.1:c.3419_3421del	ENSP00000505508.1:p.Ser1140del
ENST00000380152.7:c.3419_3421del	ENSP00000369497.3:p.Ser1140del
ENST00000544455.5:c.3419_3421del	ENSP00000439902.1:p.Ser1140del
ENST00000614259.1:n.3419_3421del
NM_000059.3:c.3419_3421del , LRG_293t1:c.3419_3421del	NP_000050.2:p.Ser1140del
XM_011535203.1:c.3419_3421del	XP_011533505.1:p.Ser1140del
XM_011535204.1:c.3419_3421del	XP_011533506.1:p.Ser1140del
XM_011535205.1:c.3419_3421del	XP_011533507.1:p.Ser1140del
NM_000059.4:c.3419_3421del MANE Select	NP_000050.3:p.Ser1140del