Canonical Allele Identifier: CA11079908
Gene:

Linked Data

dbSNP Id: rs10185316
gnomAD v2: 2-118844478-C-G
gnomAD v3: 2-118086902-C-G
gnomAD v4: 2-118086902-C-G
MyVariant Identifiers: chr2:g.118844478C>G (hg19) chr2:g.118086902C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118086902C>G , CM000664.2:g.118086902C>G GRCh38
NC_000002.11:g.118844478C>G , CM000664.1:g.118844478C>G GRCh37
NC_000002.10:g.118560948C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011512305.1:c.696+1158G>C XP_011510607.1:n.696+1158G>C
XR_001739662.2:n.138+1349G>C
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