Canonical Allele Identifier: CA658683864

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 491243
• ClinVar RCV Id: RCV000584280
• dbSNP Id: rs1555283249
• MyVariant Identifiers: chr13:g.32911944_32911947del (hg19) ; chr13:g.32337807_32337810del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337807_32337810del , CM000675.2:g.32337807_32337810del	GRCh38
NC_000013.10:g.32911944_32911947del , CM000675.1:g.32911944_32911947del	GRCh37
NC_000013.9:g.31809944_31809947del	NCBI36
NG_012772.3:g.27328_27331del , LRG_293:g.27328_27331del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.3452_3455del	ENSP00000434898.2:p.Ile1151LysfsTer16
ENST00000528762.2:c.3452_3455del	ENSP00000433168.2:p.Ile1151LysfsTer16
ENST00000530893.7:c.3083_3086del	ENSP00000499438.2:p.Ile1028LysfsTer16
ENST00000665585.2:c.3452_3455del	ENSP00000499570.2:p.Ile1151LysfsTer16
ENST00000666593.2:c.3452_3455del	ENSP00000499256.2:p.Ile1151LysfsTer16
ENST00000700202.2:c.3452_3455del	ENSP00000514856.2:p.Ile1151LysfsTer16
ENST00000380152.8:c.3452_3455del MANE Select	ENSP00000369497.3:p.Ile1151LysfsTer16
ENST00000544455.6:c.3452_3455del	ENSP00000439902.1:p.Ile1151LysfsTer16
ENST00000614259.2:c.3452_3455del	ENSP00000506251.1:p.Ile1151LysfsTer16
ENST00000680887.1:c.3452_3455del	ENSP00000505508.1:p.Ile1151LysfsTer16
ENST00000380152.7:c.3452_3455del	ENSP00000369497.3:p.Ile1151LysfsTer16
ENST00000544455.5:c.3452_3455del	ENSP00000439902.1:p.Ile1151LysfsTer16
ENST00000614259.1:n.3452_3455del
NM_000059.3:c.3452_3455del , LRG_293t1:c.3452_3455del	NP_000050.2:p.Ile1151LysfsTer16
XM_011535203.1:c.3452_3455del	XP_011533505.1:p.Ile1151LysfsTer16
XM_011535204.1:c.3452_3455del	XP_011533506.1:p.Ile1151LysfsTer16
XM_011535205.1:c.3452_3455del	XP_011533507.1:p.Ile1151LysfsTer16
NM_000059.4:c.3452_3455del MANE Select	NP_000050.3:p.Ile1151LysfsTer16