Canonical Allele Identifier: CA4689504
Gene: CHRNA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1216492
dbSNP Id: rs771693410
gnomAD v2: 8-27320762-A-T
gnomAD v4: 8-27463245-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27463245A>T , CM000670.2:g.27463245A>T GRCh38
NC_000008.10:g.27320762A>T , CM000670.1:g.27320762A>T GRCh37
NC_000008.9:g.27376679A>T NCBI36
NG_015827.1:g.21052T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407991.3:c.1198T>A MANE Select ENSP00000385026.1:p.Ser400Thr
ENST00000240132.7:c.1153T>A ENSP00000240132.2:p.Ser385Thr
ENST00000407991.2:c.1198T>A ENSP00000385026.1:p.Ser400Thr
ENST00000520600.1:n.290-1491T>A
ENST00000520933.7:c.1132T>A ENSP00000429616.2:p.Ser378Thr
ENST00000523695.5:c.*600T>A ENSP00000430612.1:n.*600T>A
NM_000742.3:c.1198T>A NP_000733.2:p.Ser400Thr
NM_001282455.1:c.1153T>A NP_001269384.1:p.Ser385Thr
XM_005273397.1:c.721T>A XP_005273454.1:p.Ser241Thr
XM_006716282.1:c.1198T>A XP_006716345.1:p.Ser400Thr
XM_011544388.1:c.1198T>A XP_011542690.1:p.Ser400Thr
XM_011544389.1:c.604T>A XP_011542691.1:p.Ser202Thr
NM_001347705.1:c.721T>A NP_001334634.1:p.Ser241Thr
NM_001347706.1:c.721T>A NP_001334635.1:p.Ser241Thr
NM_001347707.1:c.604T>A NP_001334636.1:p.Ser202Thr
NM_001347708.1:c.604T>A NP_001334637.1:p.Ser202Thr
XM_011544389.2:c.604T>A XP_011542691.1:p.Ser202Thr
NM_000742.4:c.1198T>A MANE Select NP_000733.2:p.Ser400Thr
NM_001282455.2:c.1153T>A NP_001269384.1:p.Ser385Thr
NM_001347705.2:c.721T>A NP_001334634.1:p.Ser241Thr
NM_001347706.2:c.721T>A NP_001334635.1:p.Ser241Thr
NM_001347707.2:c.604T>A NP_001334636.1:p.Ser202Thr
NM_001347708.2:c.604T>A NP_001334637.1:p.Ser202Thr