Canonical Allele Identifier: CA755748258
Gene:

Linked Data

dbSNP Id: rs1209080066
gnomAD v3: 2-118079589-G-C
gnomAD v4: 2-118079589-G-C
MyVariant Identifiers: chr2:g.118837165G>C (hg19) chr2:g.118079589G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118079589G>C , CM000664.2:g.118079589G>C GRCh38
NC_000002.11:g.118837165G>C , CM000664.1:g.118837165G>C GRCh37
NC_000002.10:g.118553635G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011512305.1:c.697-2057C>G XP_011510607.1:n.697-2057C>G
XR_001739662.2:n.138+8662C>G
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