Canonical Allele Identifier: CA2697551694

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2758697
• ClinVar RCV Id: RCV003531300

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326500_32327075delinsAAAGAAATTTTATTTCTTT , CM000675.2:g.32326500_32327075delinsAAAGAAATTTTATTTCTTT	GRCh38
NC_000013.10:g.32900637_32901212delinsAAAGAAATTTTATTTCTTT , CM000675.1:g.32900637_32901212delinsAAAGAAATTTTATTTCTTT	GRCh37
NC_000013.9:g.31798637_31799212delinsAAAGAAATTTTATTTCTTT	NCBI36
NG_012772.3:g.16021_16596delinsAAAGAAATTTTATTTCTTT , LRG_293:g.16021_16596delinsAAAGAAATTTTATTTCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.518_631+462delinsAAAGAAATTTTATTTCTTT
ENST00000528762.2:c.518_631+462delinsAAAGAAATTTTATTTCTTT
ENST00000530893.7:c.149_262+462delinsAAAGAAATTTTATTTCTTT
ENST00000665585.2:c.518_631+462delinsAAAGAAATTTTATTTCTTT
ENST00000666593.2:c.518_631+462delinsAAAGAAATTTTATTTCTTT
ENST00000700202.2:c.518_631+462delinsAAAGAAATTTTATTTCTTT
ENST00000700201.1:c.*297_*410+462delinsAAAGAAATTTTATTTCTTT
ENST00000380152.8:c.518_631+462delinsAAAGAAATTTTATTTCTTT
ENST00000544455.6:c.518_631+462delinsAAAGAAATTTTATTTCTTT
ENST00000614259.2:c.518_631+462delinsAAAGAAATTTTATTTCTTT
ENST00000680887.1:c.518_631+462delinsAAAGAAATTTTATTTCTTT
ENST00000380152.7:c.518_631+462delinsAAAGAAATTTTATTTCTTT
ENST00000530893.6:n.716_829+462delinsAAAGAAATTTTATTTCTTT
ENST00000544455.5:c.518_631+462delinsAAAGAAATTTTATTTCTTT
ENST00000614259.1:n.518_631+462delinsAAAGAAATTTTATTTCTTT
NM_000059.3:c.518_631+462delinsAAAGAAATTTTATTTCTTT , LRG_293t1:c.518_631+462delinsAAAGAAATTTTATTTCTTT
XM_011535203.1:c.518_631+462delinsAAAGAAATTTTATTTCTTT
XM_011535204.1:c.518_631+462delinsAAAGAAATTTTATTTCTTT
XM_011535205.1:c.518_631+462delinsAAAGAAATTTTATTTCTTT
NM_000059.4:c.518_631+462delinsAAAGAAATTTTATTTCTTT