ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA15203027
Gene:
Linked Data
dbSNP Id:
rs2592394
gnomAD v2:
2-176991779-A-G
gnomAD v3:
2-176127051-A-G
gnomAD v4:
2-176127051-A-G
MyVariant Identifiers:
chr2:g.176991779A>G (hg19)
chr2:g.176127051A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.176127051A>G , CM000664.2:g.176127051A>G
GRCh38
NC_000002.11:g.176991779A>G , CM000664.1:g.176991779A>G
GRCh37
NC_000002.10:g.176700025A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_241351.3:n.2581T>C
Search 100 bp 5'
Search 100 bp 3'