Canonical Allele Identifier: CA43254760
Gene:

Linked Data

dbSNP Id: rs1020849046
gnomAD v2: 2-16639729-C-T
gnomAD v3: 2-16458461-C-T
gnomAD v4: 2-16458461-C-T
MyVariant Identifiers: chr2:g.16639729C>T (hg19) chr2:g.16458461C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.16458461C>T , CM000664.2:g.16458461C>T GRCh38
NC_000002.11:g.16639729C>T , CM000664.1:g.16639729C>T GRCh37
NC_000002.10:g.16503210C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939752.1:n.396-3367G>A
Search 100 bp 5'
Search 100 bp 3'