Canonical Allele Identifier: CA1139772440
Community Standard Title: NM_001199862.2(KCNAB2):c.*2324A>T
Gene: KCNAB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6100898A>T , CM000663.2:g.6100898A>T GRCh38
NC_000001.10:g.6160958A>T , CM000663.1:g.6160958A>T GRCh37
NC_000001.9:g.6083545A>T NCBI36
NG_047091.1:g.113601A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001199862.2:c.*2324A>T MANE Select NP_001186791.1:n.*2324A>T
ENST00000378083.8:c.*2324A>T MANE Select ENSP00000367323.3:n.*2324A>T
NM_001199860.1:c.*2324A>T NP_001186789.1:n.*2324A>T
NM_001199860.2:c.*2324A>T NP_001186789.1:n.*2324A>T
NM_001199861.1:c.*2324A>T NP_001186790.1:n.*2324A>T
NM_001199861.2:c.*2324A>T NP_001186790.1:n.*2324A>T
NM_001199862.1:c.*2324A>T NP_001186791.1:n.*2324A>T
NM_001199863.1:c.*2324A>T NP_001186792.1:n.*2324A>T
NM_001199863.2:c.*2324A>T NP_001186792.1:n.*2324A>T
NM_003636.3:c.*2324A>T NP_003627.1:n.*2324A>T
NM_003636.4:c.*2324A>T NP_003627.1:n.*2324A>T
NM_172130.2:c.*2324A>T NP_742128.1:n.*2324A>T
NM_172130.3:c.*2324A>T NP_742128.1:n.*2324A>T
ENST00000164247.5:c.*2324A>T ENSP00000164247.1:n.*2324A>T
ENST00000341524.5:c.*2324A>T ENSP00000340824.1:n.*2324A>T
ENST00000341524.6:c.*2324A>T ENSP00000340824.2:n.*2324A>T
ENST00000352527.5:c.*2324A>T ENSP00000318772.1:n.*2324A>T
ENST00000352527.6:c.*2324A>T ENSP00000318772.1:n.*2324A>T
ENST00000378083.7:c.*2324A>T ENSP00000367323.3:n.*2324A>T
ENST00000378097.5:c.*2324A>T ENSP00000367337.1:n.*2324A>T
ENST00000378097.6:c.*2324A>T ENSP00000367337.1:n.*2324A>T
ENST00000428161.7:c.*2324A>T ENSP00000400285.2:n.*2324A>T
ENST00000481789.2:n.4568A>T
ENST00000652911.1:n.4113A>T
ENST00000653262.1:c.*2438A>T ENSP00000499434.1:n.*2438A>T
ENST00000653635.1:n.5697A>T
ENST00000662815.1:c.5541A>T
ENST00000665338.1:n.5035A>T
ENST00000666163.1:c.*2324A>T ENSP00000499370.1:n.*2324A>T
ENST00000669250.1:c.*2324A>T ENSP00000499485.1:n.*2324A>T
ENST00000671076.1:c.4331A>T ENSP00000499307.1:n.4331A>T
ENST00000671676.1:c.*2324A>T ENSP00000499496.1:n.*2324A>T
XM_005263514.1:c.*2324A>T XP_005263571.1:n.*2324A>T
XM_005263514.3:c.*2324A>T XP_005263571.1:n.*2324A>T
XM_011542320.1:c.*2324A>T XP_011540622.1:n.*2324A>T
XM_017002618.2:c.*2324A>T XP_016858107.1:n.*2324A>T
XM_017002619.1:c.*2324A>T XP_016858108.1:n.*2324A>T
XM_017002620.1:c.*2324A>T XP_016858109.1:n.*2324A>T
XM_017002621.2:c.*2324A>T XP_016858110.1:n.*2324A>T