Canonical Allele Identifier: CA915952968

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 658549
• ClinVar RCV Id: RCV000815397
• dbSNP Id: rs1601573302

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414996_63415005del , CM000682.2:g.63414996_63415005del	GRCh38
NC_000020.10:g.62046349_62046358del , CM000682.1:g.62046349_62046358del	GRCh37
NC_000020.9:g.61516793_61516802del	NCBI36
NG_009004.1:g.62637_62646del
NG_009004.2:g.62637_62646del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1370_1379del	ENSP00000516702.1:p.Asp457AlafsTer?
ENST00000359125.7:c.1424_1433del MANE Select	ENSP00000352035.2:p.Asp475AlafsTer?
ENST00000637193.1:c.821_830del	ENSP00000490734.1:p.Asp274AlafsTer?
ENST00000344462.8:c.1334_1343del	ENSP00000339611.4:p.Asp445AlafsTer?
ENST00000357249.6:c.992_1001del	ENSP00000349789.3:p.Asp331AlafsTer?
ENST00000359125.6:c.1424_1433del	ENSP00000352035.2:p.Asp475AlafsTer?
ENST00000360480.7:c.1340_1349del	ENSP00000353668.3:p.Asp447AlafsTer?
ENST00000370224.5:c.1340_1349del	ENSP00000359244.2:p.Asp447AlafsTer?
ENST00000625514.2:c.1304_1313del	ENSP00000486040.1:p.Asp435AlafsTer?
ENST00000626839.2:c.1370_1379del	ENSP00000486706.1:p.Asp457AlafsTer?
ENST00000627221.2:c.484_493del
ENST00000629241.2:c.1340_1349del	ENSP00000487142.1:p.Asp447AlafsTer?
ENST00000629318.1:c.32_41del	ENSP00000487384.1:p.Asp11AlafsTer?
ENST00000629676.2:c.1340_1349del	ENSP00000486194.1:p.Asp447AlafsTer?
NM_004518.4:c.1340_1349del	NP_004509.2:p.Asp447AlafsTer?
NM_172106.1:c.1370_1379del	NP_742104.1:p.Asp457AlafsTer?
NM_172107.2:c.1424_1433del	NP_742105.1:p.Asp475AlafsTer?
NM_172108.3:c.1334_1343del	NP_742106.1:p.Asp445AlafsTer?
XM_006723787.1:c.1424_1433del	XP_006723850.1:p.Asp475AlafsTer?
XM_011528807.1:c.1424_1433del	XP_011527109.1:p.Asp475AlafsTer?
XM_011528808.1:c.1424_1433del	XP_011527110.1:p.Asp475AlafsTer?
XM_011528809.1:c.1394_1403del	XP_011527111.1:p.Asp465AlafsTer?
XM_011528810.1:c.1370_1379del	XP_011527112.1:p.Asp457AlafsTer?
XM_011528811.1:c.1340_1349del	XP_011527113.1:p.Asp447AlafsTer?
XM_011528812.1:c.1424_1433del	XP_011527114.1:p.Asp475AlafsTer?
XM_011528813.1:c.1298_1307del	XP_011527115.1:p.Asp433AlafsTer?
XM_011528814.1:c.905_914del	XP_011527116.1:p.Asp302AlafsTer?
XM_011528815.1:c.1424_1433del	XP_011527117.1:p.Asp475AlafsTer?
NM_004518.5:c.1340_1349del	NP_004509.2:p.Asp447AlafsTer?
NM_172106.2:c.1370_1379del	NP_742104.1:p.Asp457AlafsTer?
NM_172107.3:c.1424_1433del	NP_742105.1:p.Asp475AlafsTer?
NM_172108.4:c.1334_1343del	NP_742106.1:p.Asp445AlafsTer?
XM_011528810.2:c.1370_1379del	XP_011527112.1:p.Asp457AlafsTer?
XM_011528811.2:c.1340_1349del	XP_011527113.1:p.Asp447AlafsTer?
XM_017027841.2:c.1370_1379del	XP_016883330.1:p.Asp457AlafsTer?
XM_017027842.2:c.1370_1379del	XP_016883331.1:p.Asp457AlafsTer?
XM_017027843.1:c.1301_1310del	XP_016883332.1:p.Asp434AlafsTer?
XM_017027844.2:c.1370_1379del	XP_016883333.1:p.Asp457AlafsTer?
XM_017027845.1:c.332_341del	XP_016883334.1:p.Asp111AlafsTer?
NM_004518.6:c.1340_1349del	NP_004509.2:p.Asp447AlafsTer?
NM_172106.3:c.1370_1379del	NP_742104.1:p.Asp457AlafsTer?
NM_172107.4:c.1424_1433del MANE Select	NP_742105.1:p.Asp475AlafsTer?
NM_172108.5:c.1334_1343del	NP_742106.1:p.Asp445AlafsTer?
NM_001382235.1:c.1370_1379del	NP_001369164.1:p.Asp457AlafsTer?