Canonical Allele Identifier: CA024740
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38078
ClinVar RCV Id: RCV000031660 RCV000255121 RCV000456457 RCV000575836 RCV000587746 RCV001357070
dbSNP Id: rs397507380
MyVariant Identifiers: chr13:g.32928993T>C (hg19) chr13:g.32354856T>C (hg38)
ERepo: CA024740/MONDO:0012933/097 CA024740/MONDO:0700269/097
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32354856T>C , CM000675.2:g.32354856T>C GRCh38
NC_000013.10:g.32928993T>C , CM000675.1:g.32928993T>C GRCh37
NC_000013.9:g.31826993T>C NCBI36
NG_012772.3:g.44377T>C , LRG_293:g.44377T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7008-5T>C ENSP00000434898.2:n.7008-5T>C
ENST00000528762.2:c.7008-5T>C ENSP00000433168.2:n.7008-5T>C
ENST00000530893.7:c.6639-5T>C ENSP00000499438.2:n.6639-5T>C
ENST00000665585.2:c.7008-5T>C ENSP00000499570.2:n.7008-5T>C
ENST00000666593.2:c.7008-5T>C ENSP00000499256.2:n.7008-5T>C
ENST00000700202.2:c.7008-5T>C ENSP00000514856.2:n.7008-5T>C
ENST00000380152.8:c.7008-5T>C MANE Select ENSP00000369497.3:n.7008-5T>C
ENST00000544455.6:c.7008-5T>C ENSP00000439902.1:n.7008-5T>C
ENST00000614259.2:c.7008-5T>C ENSP00000506251.1:n.7008-5T>C
ENST00000680887.1:c.7008-5T>C ENSP00000505508.1:n.7008-5T>C
ENST00000380152.7:c.7008-5T>C ENSP00000369497.3:n.7008-5T>C
ENST00000544455.5:c.7008-5T>C ENSP00000439902.1:n.7008-5T>C
ENST00000614259.1:n.7008-5T>C
NM_000059.3:c.7008-5T>C , LRG_293t1:c.7008-5T>C NP_000050.2:n.7008-5T>C
XM_011535203.1:c.7008-5T>C XP_011533505.1:n.7008-5T>C
XM_011535204.1:c.6912-5T>C XP_011533506.1:n.6912-5T>C
XM_011535205.1:c.7008-5T>C XP_011533507.1:n.7008-5T>C
NM_000059.4:c.7008-5T>C MANE Select NP_000050.3:n.7008-5T>C
Search 100 bp 5'
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