Canonical Allele Identifier: CA66162350
Gene:

Linked Data

dbSNP Id: rs10498091
gnomAD v2: 2-221899444-C-T
gnomAD v3: 2-221034724-C-T
gnomAD v4: 2-221034724-C-T
MyVariant Identifiers: chr2:g.221899444C>T (hg19) chr2:g.221034724C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.221034724C>T , CM000664.2:g.221034724C>T GRCh38
NC_000002.11:g.221899444C>T , CM000664.1:g.221899444C>T GRCh37
NC_000002.10:g.221607688C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001739897.1:n.187+1546G>A
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