Canonical Allele Identifier: CA460046635
Gene: CHRNA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.27320541C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27463024C>G , CM000670.2:g.27463024C>G GRCh38
NC_000008.10:g.27320541C>G , CM000670.1:g.27320541C>G GRCh37
NC_000008.9:g.27376458C>G NCBI36
NG_015827.1:g.21273G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000407991.3:c.1419G>C MANE Select ENSP00000385026.1:p.Val473=
ENST00000240132.7:c.1374G>C ENSP00000240132.2:p.Val458=
ENST00000407991.2:c.1419G>C ENSP00000385026.1:p.Val473=
ENST00000520600.1:n.290-1270G>C
ENST00000520933.7:c.1353G>C ENSP00000429616.2:p.Val451=
ENST00000523695.5:c.*821G>C ENSP00000430612.1:n.*821G>C
NM_000742.3:c.1419G>C NP_000733.2:p.Val473=
NM_001282455.1:c.1374G>C NP_001269384.1:p.Val458=
XM_005273397.1:c.942G>C XP_005273454.1:p.Val314=
XM_006716282.1:c.1419G>C XP_006716345.1:p.Val473=
XM_011544388.1:c.1419G>C XP_011542690.1:p.Val473=
XM_011544389.1:c.825G>C XP_011542691.1:p.Val275=
NM_001347705.1:c.942G>C NP_001334634.1:p.Val314=
NM_001347706.1:c.942G>C NP_001334635.1:p.Val314=
NM_001347707.1:c.825G>C NP_001334636.1:p.Val275=
NM_001347708.1:c.825G>C NP_001334637.1:p.Val275=
XM_011544389.2:c.825G>C XP_011542691.1:p.Val275=
NM_000742.4:c.1419G>C MANE Select NP_000733.2:p.Val473=
NM_001282455.2:c.1374G>C NP_001269384.1:p.Val458=
NM_001347705.2:c.942G>C NP_001334634.1:p.Val314=
NM_001347706.2:c.942G>C NP_001334635.1:p.Val314=
NM_001347707.2:c.825G>C NP_001334636.1:p.Val275=
NM_001347708.2:c.825G>C NP_001334637.1:p.Val275=