Canonical Allele Identifier: CA48691960
Gene:

Linked Data

dbSNP Id: rs17049105
gnomAD v2: 2-57972611-A-G
gnomAD v3: 2-57745476-A-G
gnomAD v4: 2-57745476-A-G
MyVariant Identifiers: chr2:g.57972611A>G (hg19) chr2:g.57745476A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.57745476A>G , CM000664.2:g.57745476A>G GRCh38
NC_000002.11:g.57972611A>G , CM000664.1:g.57972611A>G GRCh37
NC_000002.10:g.57826115A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940116.1:n.68-76055T>C
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