Canonical Allele Identifier: CA756174292
Gene:

Linked Data

dbSNP Id: rs1473204752
gnomAD v3: 2-122368824-A-C
gnomAD v4: 2-122368824-A-C
MyVariant Identifiers: chr2:g.123126400A>C (hg19) chr2:g.122368824A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122368824A>C , CM000664.2:g.122368824A>C GRCh38
NC_000002.11:g.123126400A>C , CM000664.1:g.123126400A>C GRCh37
NC_000002.10:g.122842870A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923278.1:n.556-24139A>C
XR_001739684.1:n.556-24139A>C
Search 100 bp 5'
Search 100 bp 3'