Canonical Allele Identifier: CA2374793562
Gene: KCNQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63442559_63442562delinsGACC , CM000682.2:g.63442559_63442562delinsGACC GRCh38
NC_000020.10:g.62073912_62073915delinsGACC , CM000682.1:g.62073912_62073915delinsGACC GRCh37
NC_000020.9:g.61544356_61544359delinsGACC NCBI36
NG_009004.1:g.35079_35082delinsGGTC
NG_009004.2:g.35079_35082delinsGGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.691-31_691-28delinsGGTC ENSP00000516702.1:n.691-31_691-28delinsGGTC
ENST00000344425.8:c.691-31_691-28delinsGGTC ENSP00000345523.5:n.691-31_691-28delinsGGTC
ENST00000359125.7:c.691-31_691-28delinsGGTC MANE Select ENSP00000352035.2:n.691-31_691-28delinsGGTC
ENST00000636255.1:n.429-31_429-28delinsGGTC
ENST00000637193.1:c.172-31_172-28delinsGGTC ENSP00000490734.1:n.172-31_172-28delinsGGTC
ENST00000638073.1:n.71-31_71-28delinsGGTC
ENST00000344425.7:c.691-31_691-28delinsGGTC ENSP00000345523.5:n.691-31_691-28delinsGGTC
ENST00000344462.8:c.691-31_691-28delinsGGTC ENSP00000339611.4:n.691-31_691-28delinsGGTC
ENST00000357249.6:c.349-31_349-28delinsGGTC ENSP00000349789.3:n.349-31_349-28delinsGGTC
ENST00000359125.6:c.691-31_691-28delinsGGTC ENSP00000352035.2:n.691-31_691-28delinsGGTC
ENST00000360480.7:c.691-31_691-28delinsGGTC ENSP00000353668.3:n.691-31_691-28delinsGGTC
ENST00000370221.3:n.817-31_817-28delinsGGTC
ENST00000370224.5:c.691-31_691-28delinsGGTC ENSP00000359244.2:n.691-31_691-28delinsGGTC
ENST00000625514.2:c.691-31_691-28delinsGGTC ENSP00000486040.1:n.691-31_691-28delinsGGTC
ENST00000626313.1:n.533-31_533-28delinsGGTC
ENST00000626684.1:c.56-31_56-28delinsGGTC
ENST00000626839.2:c.691-31_691-28delinsGGTC ENSP00000486706.1:n.691-31_691-28delinsGGTC
ENST00000629241.2:c.691-31_691-28delinsGGTC ENSP00000487142.1:n.691-31_691-28delinsGGTC
ENST00000629498.2:c.112-31_112-28delinsGGTC ENSP00000486509.1:n.112-31_112-28delinsGGTC
ENST00000629676.2:c.691-31_691-28delinsGGTC ENSP00000486194.1:n.691-31_691-28delinsGGTC
ENST00000630274.2:n.516-31_516-28delinsGGTC
NM_004518.4:c.691-31_691-28delinsGGTC NP_004509.2:n.691-31_691-28delinsGGTC
NM_172106.1:c.691-31_691-28delinsGGTC NP_742104.1:n.691-31_691-28delinsGGTC
NM_172107.2:c.691-31_691-28delinsGGTC NP_742105.1:n.691-31_691-28delinsGGTC
NM_172108.3:c.691-31_691-28delinsGGTC NP_742106.1:n.691-31_691-28delinsGGTC
NM_172109.1:c.691-31_691-28delinsGGTC NP_742107.1:n.691-31_691-28delinsGGTC
XM_006723787.1:c.691-31_691-28delinsGGTC XP_006723850.1:n.691-31_691-28delinsGGTC
XM_011528807.1:c.691-31_691-28delinsGGTC XP_011527109.1:n.691-31_691-28delinsGGTC
XM_011528808.1:c.691-31_691-28delinsGGTC XP_011527110.1:n.691-31_691-28delinsGGTC
XM_011528809.1:c.691-31_691-28delinsGGTC XP_011527111.1:n.691-31_691-28delinsGGTC
XM_011528810.1:c.691-31_691-28delinsGGTC XP_011527112.1:n.691-31_691-28delinsGGTC
XM_011528811.1:c.691-31_691-28delinsGGTC XP_011527113.1:n.691-31_691-28delinsGGTC
XM_011528812.1:c.691-31_691-28delinsGGTC XP_011527114.1:n.691-31_691-28delinsGGTC
XM_011528813.1:c.690+2097_690+2100delinsGGTC XP_011527115.1:n.690+2097_690+2100delinsGGTC
XM_011528814.1:c.172-31_172-28delinsGGTC XP_011527116.1:n.172-31_172-28delinsGGTC
XM_011528815.1:c.691-31_691-28delinsGGTC XP_011527117.1:n.691-31_691-28delinsGGTC
XM_011528816.1:c.691-31_691-28delinsGGTC XP_011527118.1:n.691-31_691-28delinsGGTC
NM_004518.5:c.691-31_691-28delinsGGTC NP_004509.2:n.691-31_691-28delinsGGTC
NM_172106.2:c.691-31_691-28delinsGGTC NP_742104.1:n.691-31_691-28delinsGGTC
NM_172107.3:c.691-31_691-28delinsGGTC NP_742105.1:n.691-31_691-28delinsGGTC
NM_172108.4:c.691-31_691-28delinsGGTC NP_742106.1:n.691-31_691-28delinsGGTC
NM_172109.2:c.691-31_691-28delinsGGTC NP_742107.1:n.691-31_691-28delinsGGTC
XM_011528810.2:c.691-31_691-28delinsGGTC XP_011527112.1:n.691-31_691-28delinsGGTC
XM_011528811.2:c.691-31_691-28delinsGGTC XP_011527113.1:n.691-31_691-28delinsGGTC
XM_017027841.2:c.691-31_691-28delinsGGTC XP_016883330.1:n.691-31_691-28delinsGGTC
XM_017027842.2:c.691-31_691-28delinsGGTC XP_016883331.1:n.691-31_691-28delinsGGTC
XM_017027843.1:c.622-31_622-28delinsGGTC XP_016883332.1:n.622-31_622-28delinsGGTC
XM_017027844.2:c.691-31_691-28delinsGGTC XP_016883333.1:n.691-31_691-28delinsGGTC
NM_004518.6:c.691-31_691-28delinsGGTC NP_004509.2:n.691-31_691-28delinsGGTC
NM_172106.3:c.691-31_691-28delinsGGTC NP_742104.1:n.691-31_691-28delinsGGTC
NM_172107.4:c.691-31_691-28delinsGGTC MANE Select NP_742105.1:n.691-31_691-28delinsGGTC
NM_172108.5:c.691-31_691-28delinsGGTC NP_742106.1:n.691-31_691-28delinsGGTC
NM_172109.3:c.691-31_691-28delinsGGTC NP_742107.1:n.691-31_691-28delinsGGTC
NM_001382235.1:c.691-31_691-28delinsGGTC NP_001369164.1:n.691-31_691-28delinsGGTC