Canonical Allele Identifier: CA537632899
Gene:

Linked Data

dbSNP Id: rs1420441096
gnomAD v2: 2-169117078-A-C
gnomAD v3: 2-168260568-A-C
gnomAD v4: 2-168260568-A-C
MyVariant Identifiers: chr2:g.169117078A>C (hg19) chr2:g.168260568A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168260568A>C , CM000664.2:g.168260568A>C GRCh38
NC_000002.11:g.169117078A>C , CM000664.1:g.169117078A>C GRCh37
NC_000002.10:g.168825324A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001739763.1:n.912-4528A>C
XR_001739764.1:n.318-4528A>C
XR_001739765.1:n.436-4528A>C
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