Canonical Allele Identifier: CA540001353
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs1559302261
gnomAD v2: 2-233404478-GCTGCTCCTC-G
gnomAD v4: 2-232539768-GCTGCTCCTC-G
MyVariant Identifiers: chr2:g.233404479_233404487del (hg19) chr2:g.232539769_232539777del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232539774_232539782del , CM000664.2:g.232539774_232539782del GRCh38
NC_000002.11:g.233404484_233404492del , CM000664.1:g.233404484_233404492del GRCh37
NC_000002.10:g.233112728_233112736del NCBI36
NG_012954.1:g.5048_5056del
NG_012954.2:g.5083_5091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.27_35del MANE Select ENSP00000498757.1:p.Leu10_Leu12del
ENST00000389492.3:c.27_35del ENSP00000374143.3:p.Leu10_Leu12del
ENST00000389494.7:c.27_35del ENSP00000374145.3:p.Leu10_Leu12del
ENST00000485094.1:n.48_56del
NM_005199.4:c.27_35del NP_005190.4:p.Leu10_Leu12del
NM_005199.5:c.27_35del MANE Select NP_005190.4:p.Leu10_Leu12del
Search 100 bp 5'
Search 100 bp 3'