Canonical Allele Identifier: CA526666198
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v2: 1-154544176-G-GTT
gnomAD v4: 1-154571700-G-GTT
MyVariant Identifiers: chr1:g.154544176_154544177insTT (hg19) chr1:g.154571700_154571701insTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571700_154571701insTT , CM000663.2:g.154571700_154571701insTT GRCh38
NC_000001.10:g.154544176_154544177insTT , CM000663.1:g.154544176_154544177insTT GRCh37
NC_000001.9:g.152810800_152810801insTT NCBI36
NG_008027.1:g.8920_8921insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.877_878insTT MANE Select ENSP00000357461.3:p.Asp293ValfsTer?
ENST00000636034.1:c.877_878insTT ENSP00000489703.1:p.Asp293ValfsTer?
ENST00000637900.1:c.883_884insTT ENSP00000490474.1:p.Asp295ValfsTer?
ENST00000368476.3:c.877_878insTT ENSP00000357461.3:p.Asp293ValfsTer?
NM_000748.2:c.877_878insTT NP_000739.1:p.Asp293ValfsTer?
XM_017000180.2:c.367_368insTT XP_016855669.1:p.Asp123ValfsTer?
XR_001736952.2:n.1129_1130insTT
NM_000748.3:c.877_878insTT MANE Select NP_000739.1:p.Asp293ValfsTer?
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