Canonical Allele Identifier: CA2653810016
Gene: KCNQ2 HGNC NCBI

Linked Data

gnomAD v4: 20-63445632-A-ATCCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCCTGTCTGAGCTGGGGGATCTT
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63445634_63445635insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCCTGTCTGAGCTGGGGGATCTTTC , CM000682.2:g.63445634_63445635insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCCTGTCTGAGCTGGGGGATCTTTC GRCh38
NC_000020.10:g.62076987_62076988insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCCTGTCTGAGCTGGGGGATCTTTC , CM000682.1:g.62076987_62076988insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCCTGTCTGAGCTGGGGGATCTTTC GRCh37
NC_000020.9:g.61547431_61547432insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCCTGTCTGAGCTGGGGGATCTTTC NCBI36
NG_009004.1:g.32008_32009insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA
NG_009004.2:g.32008_32009insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA ENSP00000516702.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGG...
ENST00000344425.8:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA ENSP00000345523.5:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGG...
ENST00000359125.7:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA MANE Select ENSP00000352035.2:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGG...
ENST00000636255.1:n.126-269_126-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA
ENST00000636846.1:n.96-269_96-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA
ENST00000637193.1:c.-132-269_-132-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA ENSP00000490734.1:n.-132-269_-132-268insAAGATCCCCCAGCTCAGACAG...
ENST00000637704.1:n.23-269_23-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA
ENST00000344425.7:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA ENSP00000345523.5:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGG...
ENST00000344462.8:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA ENSP00000339611.4:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGG...
ENST00000357249.6:c.46-269_46-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA ENSP00000349789.3:n.46-269_46-268insAAGATCCCCCAGCTCAGACAGGGCC...
ENST00000359125.6:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA ENSP00000352035.2:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGG...
ENST00000360480.7:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA ENSP00000353668.3:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGG...
ENST00000370221.3:n.514-269_514-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA
ENST00000370224.5:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA ENSP00000359244.2:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGG...
ENST00000625514.2:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA ENSP00000486040.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGG...
ENST00000626313.1:n.230-269_230-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA
ENST00000626839.2:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA ENSP00000486706.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGG...
ENST00000629241.2:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA ENSP00000487142.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGG...
ENST00000629676.2:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA ENSP00000486194.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGG...
NM_004518.4:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA NP_004509.2:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCC...
NM_172106.1:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA NP_742104.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCC...
NM_172107.2:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA NP_742105.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCC...
NM_172108.3:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA NP_742106.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCC...
NM_172109.1:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA NP_742107.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCC...
XM_006723787.1:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_006723850.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCA...
XM_011528807.1:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_011527109.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCA...
XM_011528808.1:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_011527110.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCA...
XM_011528809.1:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_011527111.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCA...
XM_011528810.1:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_011527112.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCA...
XM_011528811.1:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_011527113.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCA...
XM_011528812.1:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_011527114.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCA...
XM_011528813.1:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_011527115.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCA...
XM_011528814.1:c.-132-269_-132-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_011527116.1:n.-132-269_-132-268insAAGATCCCCCAGCTCAGACAGGGC...
XM_011528815.1:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_011527117.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCA...
XM_011528816.1:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_011527118.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCA...
NM_004518.5:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA NP_004509.2:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCC...
NM_172106.2:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA NP_742104.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCC...
NM_172107.3:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA NP_742105.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCC...
NM_172108.4:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA NP_742106.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCC...
NM_172109.2:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA NP_742107.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCC...
XM_011528810.2:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_011527112.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCA...
XM_011528811.2:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_011527113.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCA...
XM_017027841.2:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_016883330.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCA...
XM_017027842.2:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_016883331.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCA...
XM_017027843.1:c.319-269_319-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_016883332.1:n.319-269_319-268insAAGATCCCCCAGCTCAGACAGGGCCA...
XM_017027844.2:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA XP_016883333.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCA...
NM_004518.6:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA NP_004509.2:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCC...
NM_172106.3:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA NP_742104.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCC...
NM_172107.4:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA MANE Select NP_742105.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCC...
NM_172108.5:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA NP_742106.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCC...
NM_172109.3:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA NP_742107.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCC...
NM_001382235.1:c.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGA NP_001369164.1:n.388-269_388-268insAAGATCCCCCAGCTCAGACAGGGCCA...
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