Canonical Allele Identifier: CA763641352
Gene:

Linked Data

dbSNP Id: rs1293665156
gnomAD v3: 2-20485561-C-T
gnomAD v4: 2-20485561-C-T
MyVariant Identifiers: chr2:g.20685322C>T (hg19) chr2:g.20485561C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20485561C>T , CM000664.2:g.20485561C>T GRCh38
NC_000002.11:g.20685322C>T , CM000664.1:g.20685322C>T GRCh37
NC_000002.10:g.20548803C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_157978.1:n.530+3177G>A
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