Canonical Allele Identifier: CA431810861

Gene: CHRNG

Linked Data

• dbSNP Id: rs1692046855
• MyVariant Identifiers: chr2:g.233407635C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232542925C>T , CM000664.2:g.232542925C>T	GRCh38
NC_000002.11:g.233407635C>T , CM000664.1:g.233407635C>T	GRCh37
NC_000002.10:g.233115879C>T	NCBI36
NG_012954.1:g.8199C>T
NG_012954.2:g.8234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651502.1:c.648C>T MANE Select	ENSP00000498757.1:p.Leu216=
ENST00000389492.3:c.492C>T	ENSP00000374143.3:p.Leu164=
ENST00000389494.7:c.648C>T	ENSP00000374145.3:p.Leu216=
NM_005199.4:c.648C>T	NP_005190.4:p.Leu216=
NM_005199.5:c.648C>T MANE Select	NP_005190.4:p.Leu216=