Canonical Allele Identifier: CA51878432
Gene:

Linked Data

dbSNP Id: rs114848587
gnomAD v2: 2-88315959-C-T
gnomAD v3: 2-88016440-C-T
gnomAD v4: 2-88016440-C-T
MyVariant Identifiers: chr2:g.88315959C>T (hg19) chr2:g.88315959_88315971delinsTAAAACTGCGTTT (hg19) chr2:g.88016440C>T (hg38) chr2:g.88016440_88016452delinsTAAAACTGCGTTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016440C>T , CM000664.2:g.88016440C>T GRCh38
NC_000002.11:g.88315959C>T , CM000664.1:g.88315959C>T GRCh37
NC_000002.10:g.88097074C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.785C>T
XR_940336.3:n.785C>T
Search 100 bp 5'
Search 100 bp 3'