Canonical Allele Identifier: CA342630379
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1461202
ClinVar RCV Id: RCV001965741
dbSNP Id: rs2101520587
MyVariant Identifiers: chr1:g.154543870G>T (hg19) chr1:g.154571394G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571394G>T , CM000663.2:g.154571394G>T GRCh38
NC_000001.10:g.154543870G>T , CM000663.1:g.154543870G>T GRCh37
NC_000001.9:g.152810494G>T NCBI36
NG_008027.1:g.8614G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.571G>T MANE Select ENSP00000357461.3:p.Val191Leu
ENST00000636034.1:c.571G>T ENSP00000489703.1:p.Val191Leu
ENST00000637900.1:c.577G>T ENSP00000490474.1:p.Val193Leu
ENST00000368476.3:c.571G>T ENSP00000357461.3:p.Val191Leu
NM_000748.2:c.571G>T NP_000739.1:p.Val191Leu
XM_017000180.2:c.61G>T XP_016855669.1:p.Val21Leu
XR_001736952.2:n.823G>T
NM_000748.3:c.571G>T MANE Select NP_000739.1:p.Val191Leu
Search 100 bp 5'
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