Canonical Allele Identifier: CA2168866
Gene: CHRNG HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232543592A>T
GRCh37 chr2:g.233408302A>T
Revel Score:
ENST00000389494 0.434
ENST00000541596 0.434
ENST00000389492 0.434
gnomAD v2:
2:233408302 A / T
gnomAD v3:
2:232543592 A / T
gnomAD v4:
chr2-232543592-A-T
Joint Max Group AF 0.00204251 (AFR)
Genomes Max Group AF 0.00204984 (AFR)
Exomes Max Group AF 0.00178432 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232543592A>T , CM000664.2:g.232543592A>T GRCh38
NC_000002.11:g.233408302A>T , CM000664.1:g.233408302A>T GRCh37
NC_000002.10:g.233116546A>T NCBI36
NG_012954.1:g.8866A>T
NG_012954.2:g.8901A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.928A>T MANE Select ENSP00000498757.1:p.Thr310Ser
ENST00000389492.3:c.772A>T ENSP00000374143.3:p.Thr258Ser
ENST00000389494.7:c.928A>T ENSP00000374145.3:p.Thr310Ser
NM_005199.4:c.928A>T NP_005190.4:p.Thr310Ser
NM_005199.5:c.928A>T MANE Select NP_005190.4:p.Thr310Ser
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