Canonical Allele Identifier: CA645372661

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 433180
• ClinVar RCV Id: RCV000497475
• dbSNP Id: rs1555853977
• MyVariant Identifiers: chr20:g.62045457_62045462del (hg19) ; chr20:g.63414104_63414109del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414107_63414112del , CM000682.2:g.63414107_63414112del	GRCh38
NC_000020.10:g.62045460_62045465del , CM000682.1:g.62045460_62045465del	GRCh37
NC_000020.9:g.61515904_61515909del	NCBI36
NG_009004.1:g.63532_63537del
NG_009004.2:g.63532_63537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1556_1561del	ENSP00000516702.1:p.Lys519_Val520del
ENST00000359125.7:c.1610_1615del MANE Select	ENSP00000352035.2:p.Lys537_Val538del
ENST00000637193.1:c.1007_1012del	ENSP00000490734.1:p.Lys336_Val337del
ENST00000344462.8:c.1517_1522del	ENSP00000339611.4:p.Lys506_Val507del
ENST00000357249.6:c.1178_1183del	ENSP00000349789.3:p.Lys393_Val394del
ENST00000359125.6:c.1610_1615del	ENSP00000352035.2:p.Lys537_Val538del
ENST00000360480.7:c.1526_1531del	ENSP00000353668.3:p.Lys509_Val510del
ENST00000370224.5:c.1526_1531del	ENSP00000359244.2:p.Lys509_Val510del
ENST00000625514.2:c.1490_1495del	ENSP00000486040.1:p.Lys497_Val498del
ENST00000626839.2:c.1556_1561del	ENSP00000486706.1:p.Lys519_Val520del
ENST00000627221.2:c.667_672del
ENST00000629241.2:c.1526_1531del	ENSP00000487142.1:p.Lys509_Val510del
ENST00000629318.1:c.218_223del	ENSP00000487384.1:p.Lys73_Val74del
ENST00000629676.2:c.1526_1531del	ENSP00000486194.1:p.Lys509_Val510del
NM_004518.4:c.1526_1531del	NP_004509.2:p.Lys509_Val510del
NM_172106.1:c.1556_1561del	NP_742104.1:p.Lys519_Val520del
NM_172107.2:c.1610_1615del	NP_742105.1:p.Lys537_Val538del
NM_172108.3:c.1517_1522del	NP_742106.1:p.Lys506_Val507del
XM_006723787.1:c.1610_1615del	XP_006723850.1:p.Lys537_Val538del
XM_011528807.1:c.1610_1615del	XP_011527109.1:p.Lys537_Val538del
XM_011528808.1:c.1607_1612del	XP_011527110.1:p.Lys536_Val537del
XM_011528809.1:c.1580_1585del	XP_011527111.1:p.Lys527_Val528del
XM_011528810.1:c.1556_1561del	XP_011527112.1:p.Lys519_Val520del
XM_011528811.1:c.1526_1531del	XP_011527113.1:p.Lys509_Val510del
XM_011528812.1:c.1607_1612del	XP_011527114.1:p.Lys536_Val537del
XM_011528813.1:c.1484_1489del	XP_011527115.1:p.Lys495_Val496del
XM_011528814.1:c.1091_1096del	XP_011527116.1:p.Lys364_Val365del
XM_011528815.1:c.1610_1615del	XP_011527117.1:p.Lys537_Val538del
NM_004518.5:c.1526_1531del	NP_004509.2:p.Lys509_Val510del
NM_172106.2:c.1556_1561del	NP_742104.1:p.Lys519_Val520del
NM_172107.3:c.1610_1615del	NP_742105.1:p.Lys537_Val538del
NM_172108.4:c.1517_1522del	NP_742106.1:p.Lys506_Val507del
XM_011528810.2:c.1556_1561del	XP_011527112.1:p.Lys519_Val520del
XM_011528811.2:c.1526_1531del	XP_011527113.1:p.Lys509_Val510del
XM_017027841.2:c.1553_1558del	XP_016883330.1:p.Lys518_Val519del
XM_017027842.2:c.1556_1561del	XP_016883331.1:p.Lys519_Val520del
XM_017027843.1:c.1487_1492del	XP_016883332.1:p.Lys496_Val497del
XM_017027844.2:c.1553_1558del	XP_016883333.1:p.Lys518_Val519del
XM_017027845.1:c.518_523del	XP_016883334.1:p.Lys173_Val174del
NM_004518.6:c.1526_1531del	NP_004509.2:p.Lys509_Val510del
NM_172106.3:c.1556_1561del	NP_742104.1:p.Lys519_Val520del
NM_172107.4:c.1610_1615del MANE Select	NP_742105.1:p.Lys537_Val538del
NM_172108.5:c.1517_1522del	NP_742106.1:p.Lys506_Val507del
NM_001382235.1:c.1556_1561del	NP_001369164.1:p.Lys519_Val520del