Canonical Allele Identifier: CA2607559198
Gene: C2orf83 HGNC NCBI

Linked Data

dbSNP Id: rs2106280953
gnomAD v3: 2-227616718-G-A
gnomAD v4: 2-227616718-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227616718G>A , CM000664.2:g.227616718G>A GRCh38
NC_000002.11:g.228481434G>A , CM000664.1:g.228481434G>A GRCh37
NC_000002.10:g.228189678G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000264387.8:c.191-5062C>T ENSP00000264387.4:n.191-5062C>T
ENST00000409066.1:c.191-3684C>T ENSP00000387149.1:n.191-3684C>T
NM_001162483.1:c.191-3684C>T NP_001155955.1:n.191-3684C>T
NM_020161.3:c.191-5062C>T NP_064546.3:n.191-5062C>T
NM_001162483.2:c.191-3684C>T NP_001155955.1:n.191-3684C>T
NM_020161.4:c.191-5062C>T NP_064546.3:n.191-5062C>T
NR_172911.1:n.426-3684C>T
NR_172912.1:n.426-5062C>T
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