Canonical Allele Identifier: CA370809218

Gene: CHRNA2

Linked Data

• MyVariant Identifiers: chr8:g.27320765G>A (hg19) ; chr8:g.27463248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463248G>A , CM000670.2:g.27463248G>A	GRCh38
NC_000008.10:g.27320765G>A , CM000670.1:g.27320765G>A	GRCh37
NC_000008.9:g.27376682G>A	NCBI36
NG_015827.1:g.21049C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1195C>T MANE Select	ENSP00000385026.1:p.Pro399Ser
ENST00000240132.7:c.1150C>T	ENSP00000240132.2:p.Pro384Ser
ENST00000407991.2:c.1195C>T	ENSP00000385026.1:p.Pro399Ser
ENST00000520600.1:n.290-1494C>T
ENST00000520933.7:c.1129C>T	ENSP00000429616.2:p.Pro377Ser
ENST00000523695.5:c.*597C>T	ENSP00000430612.1:n.*597C>T
NM_000742.3:c.1195C>T	NP_000733.2:p.Pro399Ser
NM_001282455.1:c.1150C>T	NP_001269384.1:p.Pro384Ser
XM_005273397.1:c.718C>T	XP_005273454.1:p.Pro240Ser
XM_006716282.1:c.1195C>T	XP_006716345.1:p.Pro399Ser
XM_011544388.1:c.1195C>T	XP_011542690.1:p.Pro399Ser
XM_011544389.1:c.601C>T	XP_011542691.1:p.Pro201Ser
NM_001347705.1:c.718C>T	NP_001334634.1:p.Pro240Ser
NM_001347706.1:c.718C>T	NP_001334635.1:p.Pro240Ser
NM_001347707.1:c.601C>T	NP_001334636.1:p.Pro201Ser
NM_001347708.1:c.601C>T	NP_001334637.1:p.Pro201Ser
XM_011544389.2:c.601C>T	XP_011542691.1:p.Pro201Ser
NM_000742.4:c.1195C>T MANE Select	NP_000733.2:p.Pro399Ser
NM_001282455.2:c.1150C>T	NP_001269384.1:p.Pro384Ser
NM_001347705.2:c.718C>T	NP_001334634.1:p.Pro240Ser
NM_001347706.2:c.718C>T	NP_001334635.1:p.Pro240Ser
NM_001347707.2:c.601C>T	NP_001334636.1:p.Pro201Ser
NM_001347708.2:c.601C>T	NP_001334637.1:p.Pro201Ser