Canonical Allele Identifier: CA47935397
Gene: ASB3 HGNC NCBI

Linked Data

dbSNP Id: rs901231830
gnomAD v2: 2-53782470-C-G
gnomAD v3: 2-53555333-C-G
gnomAD v4: 2-53555333-C-G
MyVariant Identifiers: chr2:g.53782470C>G (hg19) chr2:g.53555333C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.53555333C>G , CM000664.2:g.53555333C>G GRCh38
NC_000002.11:g.53782470C>G , CM000664.1:g.53782470C>G GRCh37
NC_000002.10:g.53635974C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000406053.5:c.1436-21449G>C
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