Canonical Allele Identifier: CA025169
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 126141
ClinVar RCV Id: RCV000113780
dbSNP Id: rs80359667
MyVariant Identifiers: chr13:g.32930725_32930738del (hg19) chr13:g.32356588_32356601del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32356588_32356601del , CM000675.2:g.32356588_32356601del GRCh38
NC_000013.10:g.32930725_32930738del , CM000675.1:g.32930725_32930738del GRCh37
NC_000013.9:g.31828725_31828738del NCBI36
NG_012772.3:g.46109_46122del , LRG_293:g.46109_46122del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.7596_7609del ENSP00000434898.2:p.Ser2533Ter
ENST00000528762.2:c.7596_7609del ENSP00000433168.2:p.Ser2533Ter
ENST00000530893.7:c.7227_7240del ENSP00000499438.2:p.Ser2410Ter
ENST00000665585.2:c.7596_7609del ENSP00000499570.2:p.Ser2533Ter
ENST00000666593.2:c.7596_7609del ENSP00000499256.2:p.Ser2533Ter
ENST00000700202.2:c.7596_7609del ENSP00000514856.2:p.Ser2533Ter
ENST00000700202.1:c.63_76del ENSP00000514856.1:p.Ser22Ter
ENST00000380152.8:c.7596_7609del MANE Select ENSP00000369497.3:p.Ser2533Ter
ENST00000544455.6:c.7596_7609del ENSP00000439902.1:p.Ser2533Ter
ENST00000614259.2:c.7596_7609del ENSP00000506251.1:p.Ser2533Ter
ENST00000665585.1:c.161_174del
ENST00000680887.1:c.7596_7609del ENSP00000505508.1:p.Ser2533Ter
ENST00000380152.7:c.7596_7609del ENSP00000369497.3:p.Ser2533Ter
ENST00000544455.5:c.7596_7609del ENSP00000439902.1:p.Ser2533Ter
ENST00000614259.1:n.7596_7609del
NM_000059.3:c.7596_7609del , LRG_293t1:c.7596_7609del NP_000050.2:p.Ser2533Ter
XM_011535203.1:c.7596_7609del XP_011533505.1:p.Ser2533Ter
XM_011535204.1:c.7500_7513del XP_011533506.1:p.Ser2501Ter
XM_011535205.1:c.7596_7609del XP_011533507.1:p.Ser2533Ter
NM_000059.4:c.7596_7609del MANE Select NP_000050.3:p.Ser2533Ter
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