Canonical Allele Identifier: CA9958154

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 961112
• ClinVar RCV Id: RCV001234749
• dbSNP Id: rs777593960
• ExAC: 20:62038516 GTTC / G
• gnomAD v2: 20-62038516-GTTC-G
• gnomAD v4: 20-63407163-GTTC-G
• MyVariant Identifiers: chr20:g.62038517_62038519del (hg19) ; chr20:g.63407165_63407167del (hg38) ; chr20:g.63407164_63407166del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407168_63407170del , CM000682.2:g.63407168_63407170del	GRCh38
NC_000020.10:g.62038521_62038523del , CM000682.1:g.62038521_62038523del	GRCh37
NC_000020.9:g.61508965_61508967del	NCBI36
NG_009004.1:g.70475_70477del
NG_009004.2:g.70475_70477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2151_2153del	ENSP00000516702.1:p.Lys717del
ENST00000359125.7:c.2097_2099del MANE Select	ENSP00000352035.2:p.Lys699del
ENST00000637193.1:c.1494_1496del	ENSP00000490734.1:p.Lys498del
ENST00000344462.8:c.2004_2006del	ENSP00000339611.4:p.Lys668del
ENST00000357249.6:c.1665_1667del	ENSP00000349789.3:p.Lys555del
ENST00000359125.6:c.2097_2099del	ENSP00000352035.2:p.Lys699del
ENST00000360480.7:c.2013_2015del	ENSP00000353668.3:p.Lys671del
ENST00000370224.5:c.2121_2123del	ENSP00000359244.2:p.Lys707del
ENST00000625514.2:c.2085_2087del	ENSP00000486040.1:p.Lys695del
ENST00000626839.2:c.2043_2045del	ENSP00000486706.1:p.Lys681del
ENST00000629241.2:c.2013_2015del	ENSP00000487142.1:p.Lys671del
ENST00000629676.2:c.1679+6284_1679+6286del	ENSP00000486194.1:n.1679+6284_1679+6286del
NM_004518.4:c.2013_2015del	NP_004509.2:p.Lys671del
NM_172106.1:c.2043_2045del	NP_742104.1:p.Lys681del
NM_172107.2:c.2097_2099del	NP_742105.1:p.Lys699del
NM_172108.3:c.2004_2006del	NP_742106.1:p.Lys668del
XM_006723787.1:c.2139_2141del	XP_006723850.1:p.Lys713del
XM_011528807.1:c.2205_2207del	XP_011527109.1:p.Lys735del
XM_011528808.1:c.2202_2204del	XP_011527110.1:p.Lys734del
XM_011528809.1:c.2175_2177del	XP_011527111.1:p.Lys725del
XM_011528810.1:c.2151_2153del	XP_011527112.1:p.Lys717del
XM_011528811.1:c.2121_2123del	XP_011527113.1:p.Lys707del
XM_011528812.1:c.2094_2096del	XP_011527114.1:p.Lys698del
XM_011528813.1:c.2079_2081del	XP_011527115.1:p.Lys693del
XM_011528814.1:c.1686_1688del	XP_011527116.1:p.Lys562del
NM_004518.5:c.2013_2015del	NP_004509.2:p.Lys671del
NM_172106.2:c.2043_2045del	NP_742104.1:p.Lys681del
NM_172107.3:c.2097_2099del	NP_742105.1:p.Lys699del
NM_172108.4:c.2004_2006del	NP_742106.1:p.Lys668del
XM_011528810.2:c.2151_2153del	XP_011527112.1:p.Lys717del
XM_011528811.2:c.2121_2123del	XP_011527113.1:p.Lys707del
XM_017027841.2:c.2148_2150del	XP_016883330.1:p.Lys716del
XM_017027842.2:c.2085_2087del	XP_016883331.1:p.Lys695del
XM_017027843.1:c.2082_2084del	XP_016883332.1:p.Lys694del
XM_017027844.2:c.2040_2042del	XP_016883333.1:p.Lys680del
XM_017027845.1:c.1113_1115del	XP_016883334.1:p.Lys371del
NM_004518.6:c.2013_2015del	NP_004509.2:p.Lys671del
NM_172106.3:c.2043_2045del	NP_742104.1:p.Lys681del
NM_172107.4:c.2097_2099del MANE Select	NP_742105.1:p.Lys699del
NM_172108.5:c.2004_2006del	NP_742106.1:p.Lys668del
NM_001382235.1:c.2151_2153del	NP_001369164.1:p.Lys717del