ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA64382873
Gene:
Linked Data
dbSNP Id:
rs1044759493
gnomAD v2:
2-200897838-G-A
gnomAD v3:
2-200033115-G-A
gnomAD v4:
2-200033115-G-A
MyVariant Identifiers:
chr2:g.200897838G>A (hg19)
chr2:g.200033115G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.200033115G>A , CM000664.2:g.200033115G>A
GRCh38
NC_000002.11:g.200897838G>A , CM000664.1:g.200897838G>A
GRCh37
NC_000002.10:g.200606083G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_923778.1:n.178-22219C>T
Search 100 bp 5'
Search 100 bp 3'