Canonical Allele Identifier: CA342631015
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v4: 1-154571698-T-C
MyVariant Identifiers: chr1:g.154544174T>C (hg19) chr1:g.154571698T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571698T>C , CM000663.2:g.154571698T>C GRCh38
NC_000001.10:g.154544174T>C , CM000663.1:g.154544174T>C GRCh37
NC_000001.9:g.152810798T>C NCBI36
NG_008027.1:g.8918T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.875T>C MANE Select ENSP00000357461.3:p.Leu292Pro
ENST00000636034.1:c.875T>C ENSP00000489703.1:p.Leu292Pro
ENST00000637900.1:c.881T>C ENSP00000490474.1:p.Leu294Pro
ENST00000368476.3:c.875T>C ENSP00000357461.3:p.Leu292Pro
NM_000748.2:c.875T>C NP_000739.1:p.Leu292Pro
XM_017000180.2:c.365T>C XP_016855669.1:p.Leu122Pro
XR_001736952.2:n.1127T>C
NM_000748.3:c.875T>C MANE Select NP_000739.1:p.Leu292Pro
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