Canonical Allele Identifier: CA755748316
Gene:

Linked Data

dbSNP Id: rs1023726718
gnomAD v3: 2-118079706-T-A
gnomAD v4: 2-118079706-T-A
MyVariant Identifiers: chr2:g.118837282T>A (hg19) chr2:g.118079706T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118079706T>A , CM000664.2:g.118079706T>A GRCh38
NC_000002.11:g.118837282T>A , CM000664.1:g.118837282T>A GRCh37
NC_000002.10:g.118553752T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011512305.1:c.697-2174A>T XP_011510607.1:n.697-2174A>T
XR_001739662.2:n.138+8545A>T
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