Canonical Allele Identifier: CA60480227
Gene:

Linked Data

dbSNP Id: rs554084923
gnomAD v2: 2-169116953-G-A
gnomAD v3: 2-168260443-G-A
gnomAD v4: 2-168260443-G-A
MyVariant Identifiers: chr2:g.169116953G>A (hg19) chr2:g.168260443G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168260443G>A , CM000664.2:g.168260443G>A GRCh38
NC_000002.11:g.169116953G>A , CM000664.1:g.169116953G>A GRCh37
NC_000002.10:g.168825199G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001739763.1:n.912-4653G>A
XR_001739764.1:n.318-4653G>A
XR_001739765.1:n.436-4653G>A
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