Canonical Allele Identifier: CA2580087058

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1729188
• ClinVar RCV Id: RCV002324737 ; RCV004049039

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337585_32337586insAGTAG , CM000675.2:g.32337585_32337586insAGTAG	GRCh38
NC_000013.10:g.32911722_32911723insAGTAG , CM000675.1:g.32911722_32911723insAGTAG	GRCh37
NC_000013.9:g.31809722_31809723insAGTAG	NCBI36
NG_012772.3:g.27106_27107insAGTAG , LRG_293:g.27106_27107insAGTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3230_3231insAGTAG	ENSP00000434898.2:p.Ser1079ValfsTer10
ENST00000528762.2:c.3230_3231insAGTAG	ENSP00000433168.2:p.Ser1079ValfsTer10
ENST00000530893.7:c.2861_2862insAGTAG	ENSP00000499438.2:p.Ser956ValfsTer10
ENST00000665585.2:c.3230_3231insAGTAG	ENSP00000499570.2:p.Ser1079ValfsTer10
ENST00000666593.2:c.3230_3231insAGTAG	ENSP00000499256.2:p.Ser1079ValfsTer10
ENST00000700202.2:c.3230_3231insAGTAG	ENSP00000514856.2:p.Ser1079ValfsTer10
ENST00000380152.8:c.3230_3231insAGTAG MANE Select	ENSP00000369497.3:p.Ser1079ValfsTer10
ENST00000544455.6:c.3230_3231insAGTAG	ENSP00000439902.1:p.Ser1079ValfsTer10
ENST00000614259.2:c.3230_3231insAGTAG	ENSP00000506251.1:p.Ser1079ValfsTer10
ENST00000680887.1:c.3230_3231insAGTAG	ENSP00000505508.1:p.Ser1079ValfsTer10
ENST00000380152.7:c.3230_3231insAGTAG	ENSP00000369497.3:p.Ser1079ValfsTer10
ENST00000544455.5:c.3230_3231insAGTAG	ENSP00000439902.1:p.Ser1079ValfsTer10
ENST00000614259.1:n.3230_3231insAGTAG
NM_000059.3:c.3230_3231insAGTAG , LRG_293t1:c.3230_3231insAGTAG	NP_000050.2:p.Ser1079ValfsTer10
XM_011535203.1:c.3230_3231insAGTAG	XP_011533505.1:p.Ser1079ValfsTer10
XM_011535204.1:c.3230_3231insAGTAG	XP_011533506.1:p.Ser1079ValfsTer10
XM_011535205.1:c.3230_3231insAGTAG	XP_011533507.1:p.Ser1079ValfsTer10
NM_000059.4:c.3230_3231insAGTAG MANE Select	NP_000050.3:p.Ser1079ValfsTer10