Canonical Allele Identifier: CA276551
Gene: BRCA1 HGNC NCBI
NBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 209582
ClinVar RCV Id: RCV000191528
dbSNP Id: rs799906
gnomAD v2: 17-41278116-T-C
gnomAD v3: 17-43126099-T-C
gnomAD v4: 17-43126099-T-C
MyVariant Identifiers: chr17:g.41278116T>C (hg19) chr17:g.43126099T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43126099T>C , CM000679.2:g.43126099T>C GRCh38
NC_000017.10:g.41278116T>C , CM000679.1:g.41278116T>C GRCh37
NC_000017.9:g.38531642T>C NCBI36
NG_005905.2:g.91885A>G , LRG_292:g.91885A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000634433.2:c.-19-1984A>G (BRCA1) ENSP00000489431.2:n.-19-1984A>G
ENST00000356906.7:n.131+329T>C (NBR2)
ENST00000460115.5:n.161+329T>C (NBR2)
ENST00000467245.5:n.127+329T>C (NBR2)
ENST00000634433.1:c.-19-1984A>G (BRCA1) ENSP00000489431.1:n.-19-1984A>G
NR_003108.1:n.188+329T>C (NBR2)
NR_003108.2:n.214+329T>C (NBR2)
NR_138145.1:n.214+329T>C (NBR2)
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