Canonical Allele Identifier: CA534638450
Gene:

Linked Data

dbSNP Id: rs1052750135
gnomAD v2: 2-88315865-T-C
gnomAD v3: 2-88016346-T-C
gnomAD v4: 2-88016346-T-C
MyVariant Identifiers: chr2:g.88315865T>C (hg19) chr2:g.88016346T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016346T>C , CM000664.2:g.88016346T>C GRCh38
NC_000002.11:g.88315865T>C , CM000664.1:g.88315865T>C GRCh37
NC_000002.10:g.88096980T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.691T>C
XR_940336.3:n.691T>C
Search 100 bp 5'
Search 100 bp 3'