ClinGen Allele Registry
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Canonical Allele Identifier:
CA43254724
Gene:
Linked Data
dbSNP Id:
rs928048499
MyVariant Identifiers:
chr2:g.16458148A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458148A>T , CM000664.2:g.16458148A>T
GRCh38
NC_000002.11:g.16639416A>T , CM000664.1:g.16639416A>T
GRCh37
NC_000002.10:g.16502897A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939752.1:n.396-3054T>A
Search 100 bp 5'
Search 100 bp 3'