Canonical Allele Identifier: CA2648170533
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v4: 1-154571668-T-TTTTTAATGATACGGCGAC
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571668_154571669insTTTTAATGATACGGCGAC , CM000663.2:g.154571668_154571669insTTTTAATGATACGGCGAC GRCh38
NC_000001.10:g.154544144_154544145insTTTTAATGATACGGCGAC , CM000663.1:g.154544144_154544145insTTTTAATGATACGGCGAC GRCh37
NC_000001.9:g.152810768_152810769insTTTTAATGATACGGCGAC NCBI36
NG_008027.1:g.8888_8889insTTTTAATGATACGGCGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.845_846insTTTTAATGATACGGCGAC MANE Select ENSP00000357461.3:p.Leu282_Ile283insPheAsnAspThrAlaThr
ENST00000636034.1:c.845_846insTTTTAATGATACGGCGAC ENSP00000489703.1:p.Leu282_Ile283insPheAsnAspThrAlaThr
ENST00000637900.1:c.851_852insTTTTAATGATACGGCGAC ENSP00000490474.1:p.Leu284_Ile285insPheAsnAspThrAlaThr
ENST00000368476.3:c.845_846insTTTTAATGATACGGCGAC ENSP00000357461.3:p.Leu282_Ile283insPheAsnAspThrAlaThr
NM_000748.2:c.845_846insTTTTAATGATACGGCGAC NP_000739.1:p.Leu282_Ile283insPheAsnAspThrAlaThr
XM_017000180.2:c.335_336insTTTTAATGATACGGCGAC XP_016855669.1:p.Leu112_Ile113insPheAsnAspThrAlaThr
XR_001736952.2:n.1097_1098insTTTTAATGATACGGCGAC
NM_000748.3:c.845_846insTTTTAATGATACGGCGAC MANE Select NP_000739.1:p.Leu282_Ile283insPheAsnAspThrAlaThr
Search 100 bp 5'
Search 100 bp 3'