Canonical Allele Identifier: CA12675989
Gene: CHRM2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.137016561T>A
GRCh37 chr7:g.136701308T>A
gnomAD v2:
7:136701308 T / A
gnomAD v3:
7:137016561 T / A
gnomAD v4:
chr7-137016561-T-A
Joint Max Group AF 0.774612 (AFR)
Genomes Max Group AF 0.77532666 (AFR)
Exomes Max Group AF 0.75556481 (AFR)
ClinVar RCV:
RCV000873538
RCV001522458
ClinVar Variation:
703788
dbSNP:
8191992
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.137016561T>A , CM000669.2:g.137016561T>A GRCh38
NC_000007.13:g.136701308T>A , CM000669.1:g.136701308T>A GRCh37
NC_000007.12:g.136351848T>A NCBI36
NG_011846.2:g.152910T>A , LRG_405:g.152910T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000680005.1:c.*295T>A MANE Select ENSP00000505686.1:n.*295T>A
ENST00000401861.1:c.*295T>A ENSP00000384401.1:n.*295T>A
ENST00000445907.6:c.*295T>A ENSP00000399745.2:n.*295T>A
ENST00000453373.5:c.*295T>A ENSP00000415386.1:n.*295T>A
NM_000739.2:c.*295T>A , LRG_405t1:c.*295T>A NP_000730.1:n.*295T>A
NM_001006626.1:c.*295T>A NP_001006627.1:n.*295T>A
NM_001006627.1:c.*295T>A NP_001006628.1:n.*295T>A
NM_001006628.1:c.*295T>A NP_001006629.1:n.*295T>A
NM_001006629.1:c.*295T>A NP_001006630.1:n.*295T>A
NM_001006630.1:c.*295T>A , LRG_405t2:c.*295T>A NP_001006631.1:n.*295T>A
NM_001006631.1:c.*295T>A NP_001006632.1:n.*295T>A
NM_001006632.1:c.*295T>A NP_001006633.1:n.*295T>A
NR_046103.1:n.341+16233A>T
XM_011515769.1:c.*295T>A XP_011514071.1:n.*295T>A
XM_011515770.1:c.*295T>A XP_011514072.1:n.*295T>A
XM_011515771.1:c.*295T>A XP_011514073.1:n.*295T>A
XM_024446648.1:c.*295T>A XP_024302416.1:n.*295T>A
NM_001006626.2:c.*295T>A NP_001006627.1:n.*295T>A
NM_001006627.2:c.*295T>A NP_001006628.1:n.*295T>A
NM_001006628.2:c.*295T>A NP_001006629.1:n.*295T>A
NM_001006629.2:c.*295T>A NP_001006630.1:n.*295T>A
NM_001006631.2:c.*295T>A NP_001006632.1:n.*295T>A
NM_001006632.2:c.*295T>A NP_001006633.1:n.*295T>A
NM_000739.3:c.*295T>A NP_000730.1:n.*295T>A
NM_001006626.3:c.*295T>A NP_001006627.1:n.*295T>A
NM_001006627.3:c.*295T>A NP_001006628.1:n.*295T>A
NM_001006628.3:c.*295T>A NP_001006629.1:n.*295T>A
NM_001006629.3:c.*295T>A NP_001006630.1:n.*295T>A
NM_001006630.2:c.*295T>A MANE Select NP_001006631.1:n.*295T>A
NM_001006631.3:c.*295T>A NP_001006632.1:n.*295T>A
NM_001006632.3:c.*295T>A NP_001006633.1:n.*295T>A
NM_001378972.1:c.*295T>A NP_001365901.1:n.*295T>A
NM_001378973.1:c.*295T>A NP_001365902.1:n.*295T>A
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