Canonical Allele Identifier: CA54579237
Gene:

Linked Data

dbSNP Id: rs149939089
gnomAD v2: 2-118837171-C-T
gnomAD v3: 2-118079595-C-T
gnomAD v4: 2-118079595-C-T
MyVariant Identifiers: chr2:g.118837171C>T (hg19) chr2:g.118079595C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118079595C>T , CM000664.2:g.118079595C>T GRCh38
NC_000002.11:g.118837171C>T , CM000664.1:g.118837171C>T GRCh37
NC_000002.10:g.118553641C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011512305.1:c.697-2063G>A XP_011510607.1:n.697-2063G>A
XR_001739662.2:n.138+8656G>A
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