Canonical Allele Identifier: CA421231267
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v2: 1-154544181-G-A
gnomAD v4: 1-154571705-G-A
MyVariant Identifiers: chr1:g.154544181G>A (hg19) chr1:g.154544181_154544183delinsACC (hg19) chr1:g.154571705_154571707delinsACC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571705G>A , CM000663.2:g.154571705G>A GRCh38
NC_000001.10:g.154544181G>A , CM000663.1:g.154544181G>A GRCh37
NC_000001.9:g.152810805G>A NCBI36
NG_008027.1:g.8925G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.882G>A MANE Select ENSP00000357461.3:p.Val294=
ENST00000636034.1:c.882G>A ENSP00000489703.1:p.Val294=
ENST00000637900.1:c.888G>A ENSP00000490474.1:p.Val296=
ENST00000368476.3:c.882G>A ENSP00000357461.3:p.Val294=
NM_000748.2:c.882G>A NP_000739.1:p.Val294=
XM_017000180.2:c.372G>A XP_016855669.1:p.Val124=
XR_001736952.2:n.1134G>A
NM_000748.3:c.882G>A MANE Select NP_000739.1:p.Val294=
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