Canonical Allele Identifier: CA2168468
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs754725557
ExAC: 2:233404506 T / TGCCTGGGTGGGACACAAAGGAATCTCA
gnomAD v2: 2-233404506-T-TGCCTGGGTGGGACACAAAGGAATCTCA
gnomAD v4: 2-232539796-T-TGCCTGGGTGGGACACAAAGGAATCTCA
MyVariant Identifiers: chr2:g.233404506_233404507insGCCTGGGTGGGACACAAAGGAATCTCA (hg19) chr2:g.232539796_232539797insGCCTGGGTGGGACACAAAGGAATCTCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232539804_232539830dup , CM000664.2:g.232539804_232539830dup GRCh38
NC_000002.11:g.233404514_233404540dup , CM000664.1:g.233404514_233404540dup GRCh37
NC_000002.10:g.233112758_233112784dup NCBI36
NG_012954.1:g.5078_5104dup
NG_012954.2:g.5113_5139dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.55+2_55+28dup
ENST00000389492.3:c.55+2_55+28dup
ENST00000389494.7:c.55+2_55+28dup
ENST00000485094.1:n.76+2_76+28dup
NM_005199.4:c.55+2_55+28dup
NM_005199.5:c.55+2_55+28dup
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