Canonical Allele Identifier: CA025057

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38092
• ClinVar RCV Id: RCV000031674
• dbSNP Id: rs397507387
• MyVariant Identifiers: chr13:g.32905114_32905115insAG (hg19) ; chr13:g.32330977_32330978insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32330977_32330978insAG , CM000675.2:g.32330977_32330978insAG	GRCh38
NC_000013.10:g.32905114_32905115insAG , CM000675.1:g.32905114_32905115insAG	GRCh37
NC_000013.9:g.31803114_31803115insAG	NCBI36
NG_012772.3:g.20498_20499insAG , LRG_293:g.20498_20499insAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.740_741insAG	ENSP00000434898.2:p.Ser249LeufsTer3
ENST00000528762.2:c.740_741insAG	ENSP00000433168.2:p.Ser249LeufsTer3
ENST00000530893.7:c.371_372insAG	ENSP00000499438.2:p.Ser126LeufsTer3
ENST00000665585.2:c.740_741insAG	ENSP00000499570.2:p.Ser249LeufsTer3
ENST00000666593.2:c.740_741insAG	ENSP00000499256.2:p.Ser249LeufsTer3
ENST00000700202.2:c.740_741insAG	ENSP00000514856.2:p.Ser249LeufsTer3
ENST00000700201.1:c.*519_*520insAG	ENSP00000514855.1:n.*519_*520insAG
ENST00000380152.8:c.740_741insAG MANE Select	ENSP00000369497.3:p.Ser249LeufsTer3
ENST00000544455.6:c.740_741insAG	ENSP00000439902.1:p.Ser249LeufsTer3
ENST00000614259.2:c.740_741insAG	ENSP00000506251.1:p.Ser249LeufsTer3
ENST00000680887.1:c.740_741insAG	ENSP00000505508.1:p.Ser249LeufsTer3
ENST00000380152.7:c.740_741insAG	ENSP00000369497.3:p.Ser249LeufsTer3
ENST00000530893.6:n.938_939insAG
ENST00000544455.5:c.740_741insAG	ENSP00000439902.1:p.Ser249LeufsTer3
ENST00000614259.1:n.740_741insAG
NM_000059.3:c.740_741insAG , LRG_293t1:c.740_741insAG	NP_000050.2:p.Ser249LeufsTer3
XM_011535203.1:c.740_741insAG	XP_011533505.1:p.Ser249LeufsTer3
XM_011535204.1:c.740_741insAG	XP_011533506.1:p.Ser249LeufsTer3
XM_011535205.1:c.740_741insAG	XP_011533507.1:p.Ser249LeufsTer3
NM_000059.4:c.740_741insAG MANE Select	NP_000050.3:p.Ser249LeufsTer3