Canonical Allele Identifier: CA174237560
Community Standard Title: NM_000742.4(CHRNA2):c.1465-290C>T
Gene: CHRNA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27462044G>A , CM000670.2:g.27462044G>A GRCh38
NC_000008.10:g.27319561G>A , CM000670.1:g.27319561G>A GRCh37
NC_000008.9:g.27375478G>A NCBI36
NG_015827.1:g.22253C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000742.4:c.1465-290C>T MANE Select NP_000733.2:n.1465-290C>T
ENST00000407991.3:c.1465-290C>T MANE Select ENSP00000385026.1:n.1465-290C>T
NM_000742.3:c.1465-290C>T NP_000733.2:n.1465-290C>T
NM_001282455.1:c.1420-290C>T NP_001269384.1:n.1420-290C>T
NM_001282455.2:c.1420-290C>T NP_001269384.1:n.1420-290C>T
NM_001347705.1:c.988-290C>T NP_001334634.1:n.988-290C>T
NM_001347705.2:c.988-290C>T NP_001334634.1:n.988-290C>T
NM_001347706.1:c.988-290C>T NP_001334635.1:n.988-290C>T
NM_001347706.2:c.988-290C>T NP_001334635.1:n.988-290C>T
NM_001347707.1:c.871-290C>T NP_001334636.1:n.871-290C>T
NM_001347707.2:c.871-290C>T NP_001334636.1:n.871-290C>T
NM_001347708.1:c.871-290C>T NP_001334637.1:n.871-290C>T
NM_001347708.2:c.871-290C>T NP_001334637.1:n.871-290C>T
ENST00000240132.7:c.1420-290C>T ENSP00000240132.2:n.1420-290C>T
ENST00000407991.2:c.1465-290C>T ENSP00000385026.1:n.1465-290C>T
ENST00000520600.1:n.290-290C>T
ENST00000520933.7:c.1399-290C>T ENSP00000429616.2:n.1399-290C>T
ENST00000523695.5:c.*867-290C>T ENSP00000430612.1:n.*867-290C>T
XM_005273397.1:c.988-290C>T XP_005273454.1:n.988-290C>T
XM_006716282.1:c.1465-290C>T XP_006716345.1:n.1465-290C>T
XM_011544388.1:c.1465-290C>T XP_011542690.1:n.1465-290C>T
XM_011544389.1:c.871-290C>T XP_011542691.1:n.871-290C>T
XM_011544389.2:c.871-290C>T XP_011542691.1:n.871-290C>T