Canonical Allele Identifier: CA526666200

Gene: CHRNB2

Linked Data

• gnomAD v2: 1-154544177-ACGTGCC-A
• gnomAD v4: 1-154571701-ACGTGCC-A
• MyVariant Identifiers: chr1:g.154544178_154544183del (hg19) ; chr1:g.154571702_154571707del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571702_154571707del , CM000663.2:g.154571702_154571707del	GRCh38
NC_000001.10:g.154544178_154544183del , CM000663.1:g.154544178_154544183del	GRCh37
NC_000001.9:g.152810802_152810807del	NCBI36
NG_008027.1:g.8922_8927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.879_884del MANE Select	ENSP00000357461.3:p.Asp293_Pro295delinsGlu
ENST00000636034.1:c.879_884del	ENSP00000489703.1:p.Asp293_Pro295delinsGlu
ENST00000637900.1:c.885_890del	ENSP00000490474.1:p.Asp295_Pro297delinsGlu
ENST00000368476.3:c.879_884del	ENSP00000357461.3:p.Asp293_Pro295delinsGlu
NM_000748.2:c.879_884del	NP_000739.1:p.Asp293_Pro295delinsGlu
XM_017000180.2:c.369_374del	XP_016855669.1:p.Asp123_Pro125delinsGlu
XR_001736952.2:n.1131_1136del
NM_000748.3:c.879_884del MANE Select	NP_000739.1:p.Asp293_Pro295delinsGlu