Canonical Allele Identifier: CA2648170638

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571698-TCGACG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571699_154571703del , CM000663.2:g.154571699_154571703del	GRCh38
NC_000001.10:g.154544175_154544179del , CM000663.1:g.154544175_154544179del	GRCh37
NC_000001.9:g.152810799_152810803del	NCBI36
NG_008027.1:g.8919_8923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.876_880del MANE Select	ENSP00000357461.3:p.Asp293AlafsTer?
ENST00000636034.1:c.876_880del	ENSP00000489703.1:p.Asp293AlafsTer?
ENST00000637900.1:c.882_886del	ENSP00000490474.1:p.Asp295AlafsTer?
ENST00000368476.3:c.876_880del	ENSP00000357461.3:p.Asp293AlafsTer?
NM_000748.2:c.876_880del	NP_000739.1:p.Asp293AlafsTer?
XM_017000180.2:c.366_370del	XP_016855669.1:p.Asp123AlafsTer?
XR_001736952.2:n.1128_1132del
NM_000748.3:c.876_880del MANE Select	NP_000739.1:p.Asp293AlafsTer?