Canonical Allele Identifier: CA2573157295

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1484021
• ClinVar RCV Id: RCV002028185

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406948_63406949delinsCC , CM000682.2:g.63406948_63406949delinsCC	GRCh38
NC_000020.10:g.62038301_62038302delinsCC , CM000682.1:g.62038301_62038302delinsCC	GRCh37
NC_000020.9:g.61508745_61508746delinsCC	NCBI36
NG_009004.1:g.70692_70693delinsGG
NG_009004.2:g.70692_70693delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2368_2369delinsGG	ENSP00000516702.1:p.Pro790Gly
ENST00000359125.7:c.2314_2315delinsGG MANE Select	ENSP00000352035.2:p.Pro772Gly
ENST00000637193.1:c.1711_1712delinsGG	ENSP00000490734.1:p.Pro571Gly
ENST00000344462.8:c.2221_2222delinsGG	ENSP00000339611.4:p.Pro741Gly
ENST00000357249.6:c.1882_1883delinsGG	ENSP00000349789.3:p.Pro628Gly
ENST00000359125.6:c.2314_2315delinsGG	ENSP00000352035.2:p.Pro772Gly
ENST00000360480.7:c.2230_2231delinsGG	ENSP00000353668.3:p.Pro744Gly
ENST00000370224.5:c.2241+97_2241+98delinsGG	ENSP00000359244.2:n.2241+97_2241+98delinsGG
ENST00000625514.2:c.2205+97_2205+98delinsGG	ENSP00000486040.1:n.2205+97_2205+98delinsGG
ENST00000626839.2:c.2260_2261delinsGG	ENSP00000486706.1:p.Pro754Gly
ENST00000629241.2:c.2133+97_2133+98delinsGG	ENSP00000487142.1:n.2133+97_2133+98delinsGG
ENST00000629676.2:c.1680-6106_1680-6105delinsGG	ENSP00000486194.1:n.1680-6106_1680-6105delinsGG
NM_004518.4:c.2230_2231delinsGG	NP_004509.2:p.Pro744Gly
NM_172106.1:c.2260_2261delinsGG	NP_742104.1:p.Pro754Gly
NM_172107.2:c.2314_2315delinsGG	NP_742105.1:p.Pro772Gly
NM_172108.3:c.2221_2222delinsGG	NP_742106.1:p.Pro741Gly
XM_006723787.1:c.2356_2357delinsGG	XP_006723850.1:p.Pro786Gly
XM_011528807.1:c.2422_2423delinsGG	XP_011527109.1:p.Pro808Gly
XM_011528808.1:c.2419_2420delinsGG	XP_011527110.1:p.Pro807Gly
XM_011528809.1:c.2392_2393delinsGG	XP_011527111.1:p.Pro798Gly
XM_011528810.1:c.2368_2369delinsGG	XP_011527112.1:p.Pro790Gly
XM_011528811.1:c.2338_2339delinsGG	XP_011527113.1:p.Pro780Gly
XM_011528812.1:c.2311_2312delinsGG	XP_011527114.1:p.Pro771Gly
XM_011528813.1:c.2296_2297delinsGG	XP_011527115.1:p.Pro766Gly
XM_011528814.1:c.1903_1904delinsGG	XP_011527116.1:p.Pro635Gly
NM_004518.5:c.2230_2231delinsGG	NP_004509.2:p.Pro744Gly
NM_172106.2:c.2260_2261delinsGG	NP_742104.1:p.Pro754Gly
NM_172107.3:c.2314_2315delinsGG	NP_742105.1:p.Pro772Gly
NM_172108.4:c.2221_2222delinsGG	NP_742106.1:p.Pro741Gly
XM_011528810.2:c.2368_2369delinsGG	XP_011527112.1:p.Pro790Gly
XM_011528811.2:c.2338_2339delinsGG	XP_011527113.1:p.Pro780Gly
XM_017027841.2:c.2365_2366delinsGG	XP_016883330.1:p.Pro789Gly
XM_017027842.2:c.2302_2303delinsGG	XP_016883331.1:p.Pro768Gly
XM_017027843.1:c.2299_2300delinsGG	XP_016883332.1:p.Pro767Gly
XM_017027844.2:c.2257_2258delinsGG	XP_016883333.1:p.Pro753Gly
XM_017027845.1:c.1330_1331delinsGG	XP_016883334.1:p.Pro444Gly
NM_004518.6:c.2230_2231delinsGG	NP_004509.2:p.Pro744Gly
NM_172106.3:c.2260_2261delinsGG	NP_742104.1:p.Pro754Gly
NM_172107.4:c.2314_2315delinsGG MANE Select	NP_742105.1:p.Pro772Gly
NM_172108.5:c.2221_2222delinsGG	NP_742106.1:p.Pro741Gly
NM_001382235.1:c.2368_2369delinsGG	NP_001369164.1:p.Pro790Gly