Canonical Allele Identifier: CA49788700
Gene:

Linked Data

dbSNP Id: rs187293906
gnomAD v2: 2-70665662-C-T
gnomAD v3: 2-70438530-C-T
gnomAD v4: 2-70438530-C-T
MyVariant Identifiers: chr2:g.70665662C>T (hg19) chr2:g.70438530C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70438530C>T , CM000664.2:g.70438530C>T GRCh38
NC_000002.11:g.70665662C>T , CM000664.1:g.70665662C>T GRCh37
NC_000002.10:g.70519170C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940229.1:n.230-2770C>T
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Search 100 bp 3'