Canonical Allele Identifier: CA318813265
Gene:

Linked Data

dbSNP Id: rs2827312
gnomAD v2: 21-23631676-G-T
gnomAD v3: 21-22259356-G-T
gnomAD v4: 21-22259356-G-T
MyVariant Identifiers: chr21:g.23631676G>T (hg19) chr21:g.22259356G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.22259356G>T , CM000683.2:g.22259356G>T GRCh38
NC_000021.8:g.23631676G>T , CM000683.1:g.23631676G>T GRCh37
NC_000021.7:g.22553547G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001754978.1:n.221+46543G>T
Search 100 bp 5'
Search 100 bp 3'