Canonical Allele Identifier: CA66629794
Gene: C2orf83 HGNC NCBI

Linked Data

dbSNP Id: rs188558619
gnomAD v2: 2-228481464-A-G
gnomAD v3: 2-227616748-A-G
gnomAD v4: 2-227616748-A-G
MyVariant Identifiers: chr2:g.228481464A>G (hg19) chr2:g.227616748A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227616748A>G , CM000664.2:g.227616748A>G GRCh38
NC_000002.11:g.228481464A>G , CM000664.1:g.228481464A>G GRCh37
NC_000002.10:g.228189708A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000264387.8:c.191-5092T>C ENSP00000264387.4:n.191-5092T>C
ENST00000409066.1:c.191-3714T>C ENSP00000387149.1:n.191-3714T>C
NM_001162483.1:c.191-3714T>C NP_001155955.1:n.191-3714T>C
NM_020161.3:c.191-5092T>C NP_064546.3:n.191-5092T>C
NM_001162483.2:c.191-3714T>C NP_001155955.1:n.191-3714T>C
NM_020161.4:c.191-5092T>C NP_064546.3:n.191-5092T>C
NR_172911.1:n.426-3714T>C
NR_172912.1:n.426-5092T>C
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