Canonical Allele Identifier: CA54965489
Gene:

Linked Data

dbSNP Id: rs762861817
gnomAD v3: 2-122369055-T-C
gnomAD v4: 2-122369055-T-C
MyVariant Identifiers: chr2:g.123126631T>C (hg19) chr2:g.122369055T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122369055T>C , CM000664.2:g.122369055T>C GRCh38
NC_000002.11:g.123126631T>C , CM000664.1:g.123126631T>C GRCh37
NC_000002.10:g.122843101T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923278.1:n.556-23908T>C
XR_001739684.1:n.556-23908T>C
Search 100 bp 5'
Search 100 bp 3'