Canonical Allele Identifier: CA645509355

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 430603
• ClinVar RCV Id: RCV000504614
• dbSNP Id: rs1555280073
• MyVariant Identifiers: chr13:g.32890591_32890606del (hg19) ; chr13:g.32316454_32316469del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316456_32316471del , CM000675.2:g.32316456_32316471del	GRCh38
NC_000013.10:g.32890593_32890608del , CM000675.1:g.32890593_32890608del	GRCh37
NC_000013.9:g.31788593_31788608del	NCBI36
NG_012772.3:g.5977_5992del , LRG_293:g.5977_5992del
NG_017006.1:g.486_501del
NG_017006.2:g.3895_3910del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.-5_11del
ENST00000528762.2:c.-5_11del
ENST00000530893.7:c.-370_-355del	ENSP00000499438.2:n.-370_-355del
ENST00000665585.2:c.-5_11del
ENST00000666593.2:c.-5_11del
ENST00000700202.2:c.-5_11del
ENST00000700199.1:n.120_135del
ENST00000700200.1:n.120_135del
ENST00000700201.1:c.-5_11del
ENST00000380152.8:c.-5_11del
ENST00000544455.6:c.-5_11del
ENST00000680887.1:c.-5_11del
ENST00000380152.7:c.-5_11del
ENST00000530893.6:n.198_213del
ENST00000544455.5:c.-5_11del
NM_000059.3:c.-5_11del , LRG_293t1:c.-5_11del
XM_011535203.1:c.-5_11del
XM_011535204.1:c.-5_11del
XM_011535205.1:c.-5_11del
NM_000059.4:c.-5_11del