Canonical Allele Identifier: CA2580616358

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2572248
• ClinVar RCV Id: RCV003444114

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406994_63406997del , CM000682.2:g.63406994_63406997del	GRCh38
NC_000020.10:g.62038347_62038350del , CM000682.1:g.62038347_62038350del	GRCh37
NC_000020.9:g.61508791_61508794del	NCBI36
NG_009004.1:g.70646_70649del
NG_009004.2:g.70646_70649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2322_2325del	ENSP00000516702.1:p.Gly775AlafsTer?
ENST00000359125.7:c.2268_2271del MANE Select	ENSP00000352035.2:p.Gly757AlafsTer?
ENST00000637193.1:c.1665_1668del	ENSP00000490734.1:p.Gly556AlafsTer?
ENST00000344462.8:c.2175_2178del	ENSP00000339611.4:p.Gly726AlafsTer?
ENST00000357249.6:c.1836_1839del	ENSP00000349789.3:p.Gly613AlafsTer?
ENST00000359125.6:c.2268_2271del	ENSP00000352035.2:p.Gly757AlafsTer?
ENST00000360480.7:c.2184_2187del	ENSP00000353668.3:p.Gly729AlafsTer?
ENST00000370224.5:c.2241+51_2241+54del	ENSP00000359244.2:n.2241+51_2241+54del
ENST00000625514.2:c.2205+51_2205+54del	ENSP00000486040.1:n.2205+51_2205+54del
ENST00000626839.2:c.2214_2217del	ENSP00000486706.1:p.Gly739AlafsTer?
ENST00000629241.2:c.2133+51_2133+54del	ENSP00000487142.1:n.2133+51_2133+54del
ENST00000629676.2:c.1680-6152_1680-6149del	ENSP00000486194.1:n.1680-6152_1680-6149del
NM_004518.4:c.2184_2187del	NP_004509.2:p.Gly729AlafsTer?
NM_172106.1:c.2214_2217del	NP_742104.1:p.Gly739AlafsTer?
NM_172107.2:c.2268_2271del	NP_742105.1:p.Gly757AlafsTer?
NM_172108.3:c.2175_2178del	NP_742106.1:p.Gly726AlafsTer?
XM_006723787.1:c.2310_2313del	XP_006723850.1:p.Gly771AlafsTer?
XM_011528807.1:c.2376_2379del	XP_011527109.1:p.Gly793AlafsTer?
XM_011528808.1:c.2373_2376del	XP_011527110.1:p.Gly792AlafsTer?
XM_011528809.1:c.2346_2349del	XP_011527111.1:p.Gly783AlafsTer?
XM_011528810.1:c.2322_2325del	XP_011527112.1:p.Gly775AlafsTer?
XM_011528811.1:c.2292_2295del	XP_011527113.1:p.Gly765AlafsTer?
XM_011528812.1:c.2265_2268del	XP_011527114.1:p.Gly756AlafsTer?
XM_011528813.1:c.2250_2253del	XP_011527115.1:p.Gly751AlafsTer?
XM_011528814.1:c.1857_1860del	XP_011527116.1:p.Gly620AlafsTer?
NM_004518.5:c.2184_2187del	NP_004509.2:p.Gly729AlafsTer?
NM_172106.2:c.2214_2217del	NP_742104.1:p.Gly739AlafsTer?
NM_172107.3:c.2268_2271del	NP_742105.1:p.Gly757AlafsTer?
NM_172108.4:c.2175_2178del	NP_742106.1:p.Gly726AlafsTer?
XM_011528810.2:c.2322_2325del	XP_011527112.1:p.Gly775AlafsTer?
XM_011528811.2:c.2292_2295del	XP_011527113.1:p.Gly765AlafsTer?
XM_017027841.2:c.2319_2322del	XP_016883330.1:p.Gly774AlafsTer?
XM_017027842.2:c.2256_2259del	XP_016883331.1:p.Gly753AlafsTer?
XM_017027843.1:c.2253_2256del	XP_016883332.1:p.Gly752AlafsTer?
XM_017027844.2:c.2211_2214del	XP_016883333.1:p.Gly738AlafsTer?
XM_017027845.1:c.1284_1287del	XP_016883334.1:p.Gly429AlafsTer?
NM_004518.6:c.2184_2187del	NP_004509.2:p.Gly729AlafsTer?
NM_172106.3:c.2214_2217del	NP_742104.1:p.Gly739AlafsTer?
NM_172107.4:c.2268_2271del MANE Select	NP_742105.1:p.Gly757AlafsTer?
NM_172108.5:c.2175_2178del	NP_742106.1:p.Gly726AlafsTer?
NM_001382235.1:c.2322_2325del	NP_001369164.1:p.Gly775AlafsTer?