Canonical Allele Identifier: CA66968560
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs1049133814
gnomAD v2: 2-233407707-G-T
gnomAD v3: 2-232542997-G-T
gnomAD v4: 2-232542997-G-T
MyVariant Identifiers: chr2:g.233407707G>T (hg19) chr2:g.232542997G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232542997G>T , CM000664.2:g.232542997G>T GRCh38
NC_000002.11:g.233407707G>T , CM000664.1:g.233407707G>T GRCh37
NC_000002.10:g.233115951G>T NCBI36
NG_012954.1:g.8271G>T
NG_012954.2:g.8306G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000651502.1:c.720G>T MANE Select ENSP00000498757.1:p.Lys240Asn
ENST00000389492.3:c.564G>T ENSP00000374143.3:p.Lys188Asn
ENST00000389494.7:c.720G>T ENSP00000374145.3:p.Lys240Asn
NM_005199.4:c.720G>T NP_005190.4:p.Lys240Asn
NM_005199.5:c.720G>T MANE Select NP_005190.4:p.Lys240Asn
Search 100 bp 5'
Search 100 bp 3'