Canonical Allele Identifier: CA6940756

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 548397
• ClinVar RCV Id: RCV000661697
• dbSNP Id: rs765444423
• ExAC: 13:32912652 T / TGGAAG
• gnomAD v2: 13-32912652-T-TGGAAG
• gnomAD v4: 13-32338515-T-TGGAAG
• MyVariant Identifiers: chr13:g.32912652_32912653insGGAAG (hg19) ; chr13:g.32338515_32338516insGGAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338515_32338516insGGAAG , CM000675.2:g.32338515_32338516insGGAAG	GRCh38
NC_000013.10:g.32912652_32912653insGGAAG , CM000675.1:g.32912652_32912653insGGAAG	GRCh37
NC_000013.9:g.31810652_31810653insGGAAG	NCBI36
NG_012772.3:g.28036_28037insGGAAG , LRG_293:g.28036_28037insGGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.4160_4161insGGAAG	ENSP00000434898.2:p.Thr1388GlufsTer24
ENST00000528762.2:c.4160_4161insGGAAG	ENSP00000433168.2:p.Thr1388GlufsTer24
ENST00000530893.7:c.3791_3792insGGAAG	ENSP00000499438.2:p.Thr1265GlufsTer24
ENST00000665585.2:c.4160_4161insGGAAG	ENSP00000499570.2:p.Thr1388GlufsTer24
ENST00000666593.2:c.4160_4161insGGAAG	ENSP00000499256.2:p.Thr1388GlufsTer24
ENST00000700202.2:c.4160_4161insGGAAG	ENSP00000514856.2:p.Thr1388GlufsTer24
ENST00000380152.8:c.4160_4161insGGAAG MANE Select	ENSP00000369497.3:p.Thr1388GlufsTer24
ENST00000544455.6:c.4160_4161insGGAAG	ENSP00000439902.1:p.Thr1388GlufsTer24
ENST00000614259.2:c.4160_4161insGGAAG	ENSP00000506251.1:p.Thr1388GlufsTer24
ENST00000680887.1:c.4160_4161insGGAAG	ENSP00000505508.1:p.Thr1388GlufsTer24
ENST00000380152.7:c.4160_4161insGGAAG	ENSP00000369497.3:p.Thr1388GlufsTer24
ENST00000544455.5:c.4160_4161insGGAAG	ENSP00000439902.1:p.Thr1388GlufsTer24
ENST00000614259.1:n.4160_4161insGGAAG
NM_000059.3:c.4160_4161insGGAAG , LRG_293t1:c.4160_4161insGGAAG	NP_000050.2:p.Thr1388GlufsTer24
XM_011535203.1:c.4160_4161insGGAAG	XP_011533505.1:p.Thr1388GlufsTer24
XM_011535204.1:c.4160_4161insGGAAG	XP_011533506.1:p.Thr1388GlufsTer24
XM_011535205.1:c.4160_4161insGGAAG	XP_011533507.1:p.Thr1388GlufsTer24
NM_000059.4:c.4160_4161insGGAAG MANE Select	NP_000050.3:p.Thr1388GlufsTer24