Canonical Allele Identifier: CA43895652
Gene:

Linked Data

dbSNP Id: rs890618495
MyVariant Identifiers: chr2:g.20685318A>C (hg19) chr2:g.20485557A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20485557A>C , CM000664.2:g.20485557A>C GRCh38
NC_000002.11:g.20685318A>C , CM000664.1:g.20685318A>C GRCh37
NC_000002.10:g.20548799A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_157978.1:n.530+3181T>G
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