Canonical Allele Identifier: CA760372024
Gene:

Linked Data

dbSNP Id: rs1250747489
gnomAD v3: 2-168260463-C-A
gnomAD v4: 2-168260463-C-A
MyVariant Identifiers: chr2:g.169116973C>A (hg19) chr2:g.168260463C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168260463C>A , CM000664.2:g.168260463C>A GRCh38
NC_000002.11:g.169116973C>A , CM000664.1:g.169116973C>A GRCh37
NC_000002.10:g.168825219C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001739763.1:n.912-4633C>A
XR_001739764.1:n.318-4633C>A
XR_001739765.1:n.436-4633C>A
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