Canonical Allele Identifier: CA2653801686
Gene: KCNQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63419578_63419579insT , CM000682.2:g.63419578_63419579insT GRCh38
NC_000020.10:g.62050931_62050932insT , CM000682.1:g.62050931_62050932insT GRCh37
NC_000020.9:g.61521375_61521376insT NCBI36
NG_009004.1:g.58062_58063insA
NG_009004.2:g.58062_58063insA

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.1248-4453_1248-4452insA ENSP00000516702.1:n.1248-4453_1248-4452insA
ENST00000359125.7:c.1301+40_1301+41insA MANE Select ENSP00000352035.2:n.1301+40_1301+41insA
ENST00000637193.1:c.699-4453_699-4452insA ENSP00000490734.1:n.699-4453_699-4452insA
ENST00000637584.1:n.75-4489_75-4488insA
ENST00000344462.8:c.1248-4489_1248-4488insA ENSP00000339611.4:n.1248-4489_1248-4488insA
ENST00000357249.6:c.906-4489_906-4488insA ENSP00000349789.3:n.906-4489_906-4488insA
ENST00000359125.6:c.1301+40_1301+41insA ENSP00000352035.2:n.1301+40_1301+41insA
ENST00000360480.7:c.1218-4453_1218-4452insA ENSP00000353668.3:n.1218-4453_1218-4452insA
ENST00000370224.5:c.1218-4453_1218-4452insA ENSP00000359244.2:n.1218-4453_1218-4452insA
ENST00000625514.2:c.1218-4489_1218-4488insA ENSP00000486040.1:n.1218-4489_1218-4488insA
ENST00000626839.2:c.1248-4453_1248-4452insA ENSP00000486706.1:n.1248-4453_1248-4452insA
ENST00000627221.2:c.362-4453_362-4452insA
ENST00000629241.2:c.1218-4453_1218-4452insA ENSP00000487142.1:n.1218-4453_1218-4452insA
ENST00000629676.2:c.1218-4453_1218-4452insA ENSP00000486194.1:n.1218-4453_1218-4452insA
NM_004518.4:c.1218-4453_1218-4452insA NP_004509.2:n.1218-4453_1218-4452insA
NM_172106.1:c.1248-4453_1248-4452insA NP_742104.1:n.1248-4453_1248-4452insA
NM_172107.2:c.1301+40_1301+41insA NP_742105.1:n.1301+40_1301+41insA
NM_172108.3:c.1248-4489_1248-4488insA NP_742106.1:n.1248-4489_1248-4488insA
XM_006723787.1:c.1301+40_1301+41insA XP_006723850.1:n.1301+40_1301+41insA
XM_011528807.1:c.1301+40_1301+41insA XP_011527109.1:n.1301+40_1301+41insA
XM_011528808.1:c.1301+40_1301+41insA XP_011527110.1:n.1301+40_1301+41insA
XM_011528809.1:c.1271+40_1271+41insA XP_011527111.1:n.1271+40_1271+41insA
XM_011528810.1:c.1248-4453_1248-4452insA XP_011527112.1:n.1248-4453_1248-4452insA
XM_011528811.1:c.1218-4453_1218-4452insA XP_011527113.1:n.1218-4453_1218-4452insA
XM_011528812.1:c.1301+40_1301+41insA XP_011527114.1:n.1301+40_1301+41insA
XM_011528813.1:c.1175+40_1175+41insA XP_011527115.1:n.1175+40_1175+41insA
XM_011528814.1:c.782+40_782+41insA XP_011527116.1:n.782+40_782+41insA
XM_011528815.1:c.1301+40_1301+41insA XP_011527117.1:n.1301+40_1301+41insA
NM_004518.5:c.1218-4453_1218-4452insA NP_004509.2:n.1218-4453_1218-4452insA
NM_172106.2:c.1248-4453_1248-4452insA NP_742104.1:n.1248-4453_1248-4452insA
NM_172107.3:c.1301+40_1301+41insA NP_742105.1:n.1301+40_1301+41insA
NM_172108.4:c.1248-4489_1248-4488insA NP_742106.1:n.1248-4489_1248-4488insA
XM_011528810.2:c.1248-4453_1248-4452insA XP_011527112.1:n.1248-4453_1248-4452insA
XM_011528811.2:c.1218-4453_1218-4452insA XP_011527113.1:n.1218-4453_1218-4452insA
XM_017027841.2:c.1248-4453_1248-4452insA XP_016883330.1:n.1248-4453_1248-4452insA
XM_017027842.2:c.1248-4453_1248-4452insA XP_016883331.1:n.1248-4453_1248-4452insA
XM_017027843.1:c.1179-4453_1179-4452insA XP_016883332.1:n.1179-4453_1179-4452insA
XM_017027844.2:c.1248-4453_1248-4452insA XP_016883333.1:n.1248-4453_1248-4452insA
XM_017027845.1:c.209+40_209+41insA XP_016883334.1:n.209+40_209+41insA
NM_004518.6:c.1218-4453_1218-4452insA NP_004509.2:n.1218-4453_1218-4452insA
NM_172106.3:c.1248-4453_1248-4452insA NP_742104.1:n.1248-4453_1248-4452insA
NM_172107.4:c.1301+40_1301+41insA MANE Select NP_742105.1:n.1301+40_1301+41insA
NM_172108.5:c.1248-4489_1248-4488insA NP_742106.1:n.1248-4489_1248-4488insA
NM_001382235.1:c.1248-4453_1248-4452insA NP_001369164.1:n.1248-4453_1248-4452insA