Canonical Allele Identifier: CA2837995039

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407100_63407107del , CM000682.2:g.63407100_63407107del	GRCh38
NC_000020.10:g.62038453_62038460del , CM000682.1:g.62038453_62038460del	GRCh37
NC_000020.9:g.61508897_61508904del	NCBI36
NG_009004.1:g.70540_70547del
NG_009004.2:g.70540_70547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2216_2223del	ENSP00000516702.1:p.Gln739ProfsTer?
ENST00000359125.7:c.2162_2169del MANE Select	ENSP00000352035.2:p.Gln721ProfsTer?
ENST00000637193.1:c.1559_1566del	ENSP00000490734.1:p.Gln520ProfsTer?
ENST00000344462.8:c.2069_2076del	ENSP00000339611.4:p.Gln690ProfsTer?
ENST00000357249.6:c.1730_1737del	ENSP00000349789.3:p.Gln577ProfsTer?
ENST00000359125.6:c.2162_2169del	ENSP00000352035.2:p.Gln721ProfsTer?
ENST00000360480.7:c.2078_2085del	ENSP00000353668.3:p.Gln693ProfsTer?
ENST00000370224.5:c.2186_2193del	ENSP00000359244.2:p.Gln729ProfsTer?
ENST00000625514.2:c.2150_2157del	ENSP00000486040.1:p.Gln717ProfsTer?
ENST00000626839.2:c.2108_2115del	ENSP00000486706.1:p.Gln703ProfsTer?
ENST00000629241.2:c.2078_2085del	ENSP00000487142.1:p.Gln693ProfsTer?
ENST00000629676.2:c.1680-6258_1680-6251del	ENSP00000486194.1:n.1680-6258_1680-6251del
NM_004518.4:c.2078_2085del	NP_004509.2:p.Gln693ProfsTer?
NM_172106.1:c.2108_2115del	NP_742104.1:p.Gln703ProfsTer?
NM_172107.2:c.2162_2169del	NP_742105.1:p.Gln721ProfsTer?
NM_172108.3:c.2069_2076del	NP_742106.1:p.Gln690ProfsTer?
XM_006723787.1:c.2204_2211del	XP_006723850.1:p.Gln735ProfsTer?
XM_011528807.1:c.2270_2277del	XP_011527109.1:p.Gln757ProfsTer?
XM_011528808.1:c.2267_2274del	XP_011527110.1:p.Gln756ProfsTer?
XM_011528809.1:c.2240_2247del	XP_011527111.1:p.Gln747ProfsTer?
XM_011528810.1:c.2216_2223del	XP_011527112.1:p.Gln739ProfsTer?
XM_011528811.1:c.2186_2193del	XP_011527113.1:p.Gln729ProfsTer?
XM_011528812.1:c.2159_2166del	XP_011527114.1:p.Gln720ProfsTer?
XM_011528813.1:c.2144_2151del	XP_011527115.1:p.Gln715ProfsTer?
XM_011528814.1:c.1751_1758del	XP_011527116.1:p.Gln584ProfsTer?
NM_004518.5:c.2078_2085del	NP_004509.2:p.Gln693ProfsTer?
NM_172106.2:c.2108_2115del	NP_742104.1:p.Gln703ProfsTer?
NM_172107.3:c.2162_2169del	NP_742105.1:p.Gln721ProfsTer?
NM_172108.4:c.2069_2076del	NP_742106.1:p.Gln690ProfsTer?
XM_011528810.2:c.2216_2223del	XP_011527112.1:p.Gln739ProfsTer?
XM_011528811.2:c.2186_2193del	XP_011527113.1:p.Gln729ProfsTer?
XM_017027841.2:c.2213_2220del	XP_016883330.1:p.Gln738ProfsTer?
XM_017027842.2:c.2150_2157del	XP_016883331.1:p.Gln717ProfsTer?
XM_017027843.1:c.2147_2154del	XP_016883332.1:p.Gln716ProfsTer?
XM_017027844.2:c.2105_2112del	XP_016883333.1:p.Gln702ProfsTer?
XM_017027845.1:c.1178_1185del	XP_016883334.1:p.Gln393ProfsTer?
NM_004518.6:c.2078_2085del	NP_004509.2:p.Gln693ProfsTer?
NM_172106.3:c.2108_2115del	NP_742104.1:p.Gln703ProfsTer?
NM_172107.4:c.2162_2169del MANE Select	NP_742105.1:p.Gln721ProfsTer?
NM_172108.5:c.2069_2076del	NP_742106.1:p.Gln690ProfsTer?
NM_001382235.1:c.2216_2223del	NP_001369164.1:p.Gln739ProfsTer?