Canonical Allele Identifier: CA421231269
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v2: 1-154544181-G-T
gnomAD v4: 1-154571705-G-T
MyVariant Identifiers: chr1:g.154544181G>T (hg19) chr1:g.154544181_154544183delinsTCC (hg19) chr1:g.154571705_154571707delinsTCC (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.882G>T MANE Select ENSP00000357461.3:p.Val294=
ENST00000636034.1:c.882G>T ENSP00000489703.1:p.Val294=
ENST00000637900.1:c.888G>T ENSP00000490474.1:p.Val296=
ENST00000368476.3:c.882G>T ENSP00000357461.3:p.Val294=
NM_000748.2:c.882G>T NP_000739.1:p.Val294=
XM_017000180.2:c.372G>T XP_016855669.1:p.Val124=
XR_001736952.2:n.1134G>T
NM_000748.3:c.882G>T MANE Select NP_000739.1:p.Val294=
Search 100 bp 5'
Search 100 bp 3'