Canonical Allele Identifier: CA526408546
Gene: CHRNB2 HGNC NCBI

Linked Data

dbSNP Id: rs1696270945
gnomAD v2: 1-154548606-CTT-C
gnomAD v3: 1-154576130-CTT-C
gnomAD v4: 1-154576130-CTT-C
MyVariant Identifiers: chr1:g.154548607_154548608del (hg19) chr1:g.154576131_154576132del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154576132_154576133del , CM000663.2:g.154576132_154576133del GRCh38
NC_000001.10:g.154548608_154548609del , CM000663.1:g.154548608_154548609del GRCh37
NC_000001.9:g.152815232_152815233del NCBI36
NG_008027.1:g.13352_13353del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.*200_*201del MANE Select ENSP00000357461.3:n.*200_*201del
ENST00000636034.1:c.1505+204_1505+205del ENSP00000489703.1:n.1505+204_1505+205del
ENST00000637900.1:c.*200_*201del ENSP00000490474.1:n.*200_*201del
ENST00000368476.3:c.*200_*201del ENSP00000357461.3:n.*200_*201del
NM_000748.2:c.*200_*201del NP_000739.1:n.*200_*201del
XM_017000180.2:c.*200_*201del XP_016855669.1:n.*200_*201del
XR_001736952.2:n.1961_1962del
NM_000748.3:c.*200_*201del MANE Select NP_000739.1:n.*200_*201del
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