Canonical Allele Identifier: CA018047

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51466
• ClinVar RCV Id: RCV000577339
• dbSNP Id: rs1555283246
• MyVariant Identifiers: chr13:g.32911941_32911942insAG (hg19) ; chr13:g.32337804_32337805insAG (hg38)
• PubMed: PMID:22762150

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337804_32337805insAG , CM000675.2:g.32337804_32337805insAG	GRCh38
NC_000013.10:g.32911941_32911942insAG , CM000675.1:g.32911941_32911942insAG	GRCh37
NC_000013.9:g.31809941_31809942insAG	NCBI36
NG_012772.3:g.27325_27326insAG , LRG_293:g.27325_27326insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3449_3450insAG	ENSP00000434898.2:p.Ile1151ValfsTer3
ENST00000528762.2:c.3449_3450insAG	ENSP00000433168.2:p.Ile1151ValfsTer3
ENST00000530893.7:c.3080_3081insAG	ENSP00000499438.2:p.Ile1028ValfsTer3
ENST00000665585.2:c.3449_3450insAG	ENSP00000499570.2:p.Ile1151ValfsTer3
ENST00000666593.2:c.3449_3450insAG	ENSP00000499256.2:p.Ile1151ValfsTer3
ENST00000700202.2:c.3449_3450insAG	ENSP00000514856.2:p.Ile1151ValfsTer3
ENST00000380152.8:c.3449_3450insAG MANE Select	ENSP00000369497.3:p.Ile1151ValfsTer3
ENST00000544455.6:c.3449_3450insAG	ENSP00000439902.1:p.Ile1151ValfsTer3
ENST00000614259.2:c.3449_3450insAG	ENSP00000506251.1:p.Ile1151ValfsTer3
ENST00000680887.1:c.3449_3450insAG	ENSP00000505508.1:p.Ile1151ValfsTer3
ENST00000380152.7:c.3449_3450insAG	ENSP00000369497.3:p.Ile1151ValfsTer3
ENST00000544455.5:c.3449_3450insAG	ENSP00000439902.1:p.Ile1151ValfsTer3
ENST00000614259.1:n.3449_3450insAG
NM_000059.3:c.3449_3450insAG , LRG_293t1:c.3449_3450insAG	NP_000050.2:p.Ile1151ValfsTer3
XM_011535203.1:c.3449_3450insAG	XP_011533505.1:p.Ile1151ValfsTer3
XM_011535204.1:c.3449_3450insAG	XP_011533506.1:p.Ile1151ValfsTer3
XM_011535205.1:c.3449_3450insAG	XP_011533507.1:p.Ile1151ValfsTer3
NM_000059.4:c.3449_3450insAG MANE Select	NP_000050.3:p.Ile1151ValfsTer3