Canonical Allele Identifier: CA658823760

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 548384
• ClinVar RCV Id: RCV000661665
• dbSNP Id: rs1555286967
• MyVariant Identifiers: chr13:g.32937387_32937388insT (hg19) ; chr13:g.32363250_32363251insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363250_32363251insT , CM000675.2:g.32363250_32363251insT	GRCh38
NC_000013.10:g.32937387_32937388insT , CM000675.1:g.32937387_32937388insT	GRCh37
NC_000013.9:g.31835387_31835388insT	NCBI36
NG_012772.3:g.52771_52772insT , LRG_293:g.52771_52772insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8048_8049insT	ENSP00000434898.2:p.Thr2685AsnfsTer8
ENST00000528762.2:c.8048_8049insT	ENSP00000433168.2:p.Thr2685AsnfsTer8
ENST00000530893.7:c.7679_7680insT	ENSP00000499438.2:p.Thr2562AsnfsTer8
ENST00000665585.2:c.8048_8049insT	ENSP00000499570.2:p.Thr2685AsnfsTer8
ENST00000666593.2:c.8048_8049insT	ENSP00000499256.2:p.Thr2685AsnfsTer8
ENST00000700202.2:c.8048_8049insT	ENSP00000514856.2:p.Thr2685AsnfsTer8
ENST00000700202.1:c.515_516insT	ENSP00000514856.1:p.Thr174AsnfsTer8
ENST00000380152.8:c.8048_8049insT MANE Select	ENSP00000369497.3:p.Thr2685AsnfsTer8
ENST00000544455.6:c.8048_8049insT	ENSP00000439902.1:p.Thr2685AsnfsTer8
ENST00000614259.2:c.8056_8057insT	ENSP00000506251.1:n.8056_8057insT
ENST00000665585.1:c.613_614insT
ENST00000680887.1:c.8048_8049insT	ENSP00000505508.1:p.Thr2685AsnfsTer8
ENST00000380152.7:c.8048_8049insT	ENSP00000369497.3:p.Thr2685AsnfsTer8
ENST00000544455.5:c.8048_8049insT	ENSP00000439902.1:p.Thr2685AsnfsTer8
NM_000059.3:c.8048_8049insT , LRG_293t1:c.8048_8049insT	NP_000050.2:p.Thr2685AsnfsTer8
XM_011535203.1:c.8048_8049insT	XP_011533505.1:p.Thr2685AsnfsTer8
XM_011535204.1:c.7952_7953insT	XP_011533506.1:p.Thr2653AsnfsTer8
XM_011535205.1:c.8048_8049insT	XP_011533507.1:p.Thr2685AsnfsTer8
NM_000059.4:c.8048_8049insT MANE Select	NP_000050.3:p.Thr2685AsnfsTer8