Canonical Allele Identifier: CA2622596979
Gene: BRCA2 HGNC NCBI

Linked Data

gnomAD v4: 13-32315504-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32315504C>A , CM000675.2:g.32315504C>A GRCh38
NC_000013.10:g.32889641C>A , CM000675.1:g.32889641C>A GRCh37
NC_000013.9:g.31787641C>A NCBI36
NG_012772.3:g.5025C>A , LRG_293:g.5025C>A
NG_017006.1:g.1451G>T
NG_017006.2:g.4860G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000544455.6:c.-40+359C>A ENSP00000439902.1:n.-40+359C>A
ENST00000380152.7:c.-203C>A ENSP00000369497.3:n.-203C>A
ENST00000544455.5:c.-203C>A ENSP00000439902.1:n.-203C>A
NM_000059.3:c.-203C>A , LRG_293t1:c.-203C>A NP_000050.2:n.-203C>A
XM_011535203.1:c.-40+359C>A XP_011533505.1:n.-40+359C>A
XM_011535204.1:c.-203C>A XP_011533506.1:n.-203C>A
XM_011535205.1:c.-203C>A XP_011533507.1:n.-203C>A
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