Canonical Allele Identifier: CA370809326

Gene: CHRNA2

Linked Data

• gnomAD v4: 8-27463284-C-G
• MyVariant Identifiers: chr8:g.27320801C>G (hg19) ; chr8:g.27463284C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27463284C>G , CM000670.2:g.27463284C>G	GRCh38
NC_000008.10:g.27320801C>G , CM000670.1:g.27320801C>G	GRCh37
NC_000008.9:g.27376718C>G	NCBI36
NG_015827.1:g.21013G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.1159G>C MANE Select	ENSP00000385026.1:p.Val387Leu
ENST00000240132.7:c.1114G>C	ENSP00000240132.2:p.Val372Leu
ENST00000407991.2:c.1159G>C	ENSP00000385026.1:p.Val387Leu
ENST00000520600.1:n.290-1530G>C
ENST00000520933.7:c.1093G>C	ENSP00000429616.2:p.Val365Leu
ENST00000523695.5:c.*561G>C	ENSP00000430612.1:n.*561G>C
NM_000742.3:c.1159G>C	NP_000733.2:p.Val387Leu
NM_001282455.1:c.1114G>C	NP_001269384.1:p.Val372Leu
XM_005273397.1:c.682G>C	XP_005273454.1:p.Val228Leu
XM_006716282.1:c.1159G>C	XP_006716345.1:p.Val387Leu
XM_011544388.1:c.1159G>C	XP_011542690.1:p.Val387Leu
XM_011544389.1:c.565G>C	XP_011542691.1:p.Val189Leu
NM_001347705.1:c.682G>C	NP_001334634.1:p.Val228Leu
NM_001347706.1:c.682G>C	NP_001334635.1:p.Val228Leu
NM_001347707.1:c.565G>C	NP_001334636.1:p.Val189Leu
NM_001347708.1:c.565G>C	NP_001334637.1:p.Val189Leu
XM_011544389.2:c.565G>C	XP_011542691.1:p.Val189Leu
NM_000742.4:c.1159G>C MANE Select	NP_000733.2:p.Val387Leu
NM_001282455.2:c.1114G>C	NP_001269384.1:p.Val372Leu
NM_001347705.2:c.682G>C	NP_001334634.1:p.Val228Leu
NM_001347706.2:c.682G>C	NP_001334635.1:p.Val228Leu
NM_001347707.2:c.565G>C	NP_001334636.1:p.Val189Leu
NM_001347708.2:c.565G>C	NP_001334637.1:p.Val189Leu