Canonical Allele Identifier: CA1130714
Gene: CHRNB2 HGNC NCBI

Linked Data

dbSNP Id: rs376991573
ExAC: 1:154543645 C / T
gnomAD v2: 1-154543645-C-T
gnomAD v3: 1-154571169-C-T
gnomAD v4: 1-154571169-C-T
MyVariant Identifiers: chr1:g.154543645C>T (hg19) chr1:g.154571169C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571169C>T , CM000663.2:g.154571169C>T GRCh38
NC_000001.10:g.154543645C>T , CM000663.1:g.154543645C>T GRCh37
NC_000001.9:g.152810269C>T NCBI36
NG_008027.1:g.8389C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.366-20C>T MANE Select ENSP00000357461.3:n.366-20C>T
ENST00000636034.1:c.366-20C>T ENSP00000489703.1:n.366-20C>T
ENST00000637900.1:c.372-20C>T ENSP00000490474.1:n.372-20C>T
ENST00000368476.3:c.366-20C>T ENSP00000357461.3:n.366-20C>T
NM_000748.2:c.366-20C>T NP_000739.1:n.366-20C>T
XM_017000180.2:c.-9-156C>T XP_016855669.1:n.-9-156C>T
XR_001736952.2:n.618-20C>T
NM_000748.3:c.366-20C>T MANE Select NP_000739.1:n.366-20C>T
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