Canonical Allele Identifier: CA60480248
Gene:

Linked Data

dbSNP Id: rs1030955433
gnomAD v3: 2-168260630-G-T
gnomAD v4: 2-168260630-G-T
MyVariant Identifiers: chr2:g.169117140G>T (hg19) chr2:g.168260630G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168260630G>T , CM000664.2:g.168260630G>T GRCh38
NC_000002.11:g.169117140G>T , CM000664.1:g.169117140G>T GRCh37
NC_000002.10:g.168825386G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001739763.1:n.912-4466G>T
XR_001739764.1:n.318-4466G>T
XR_001739765.1:n.436-4466G>T
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