Canonical Allele Identifier: CA645369788

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 429899
• ClinVar RCV Id: RCV000494373
• dbSNP Id: rs1131691658
• MyVariant Identifiers: chr20:g.62038531del (hg19) ; chr20:g.63407178del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407179del , CM000682.2:g.63407179del	GRCh38
NC_000020.10:g.62038532del , CM000682.1:g.62038532del	GRCh37
NC_000020.9:g.61508976del	NCBI36
NG_009004.1:g.70463del
NG_009004.2:g.70463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2139del	ENSP00000516702.1:p.Thr714ArgfsTer?
ENST00000359125.7:c.2085del MANE Select	ENSP00000352035.2:p.Thr696ArgfsTer?
ENST00000637193.1:c.1482del	ENSP00000490734.1:p.Thr495ArgfsTer?
ENST00000344462.8:c.1992del	ENSP00000339611.4:p.Thr665ArgfsTer?
ENST00000357249.6:c.1653del	ENSP00000349789.3:p.Thr552ArgfsTer?
ENST00000359125.6:c.2085del	ENSP00000352035.2:p.Thr696ArgfsTer?
ENST00000360480.7:c.2001del	ENSP00000353668.3:p.Thr668ArgfsTer?
ENST00000370224.5:c.2109del	ENSP00000359244.2:p.Thr704ArgfsTer?
ENST00000625514.2:c.2073del	ENSP00000486040.1:p.Thr692ArgfsTer?
ENST00000626839.2:c.2031del	ENSP00000486706.1:p.Thr678ArgfsTer?
ENST00000629241.2:c.2001del	ENSP00000487142.1:p.Thr668ArgfsTer?
ENST00000629676.2:c.1679+6272del	ENSP00000486194.1:n.1679+6272del
NM_004518.4:c.2001del	NP_004509.2:p.Thr668ArgfsTer?
NM_172106.1:c.2031del	NP_742104.1:p.Thr678ArgfsTer?
NM_172107.2:c.2085del	NP_742105.1:p.Thr696ArgfsTer?
NM_172108.3:c.1992del	NP_742106.1:p.Thr665ArgfsTer?
XM_006723787.1:c.2127del	XP_006723850.1:p.Thr710ArgfsTer?
XM_011528807.1:c.2193del	XP_011527109.1:p.Thr732ArgfsTer?
XM_011528808.1:c.2190del	XP_011527110.1:p.Thr731ArgfsTer?
XM_011528809.1:c.2163del	XP_011527111.1:p.Thr722ArgfsTer?
XM_011528810.1:c.2139del	XP_011527112.1:p.Thr714ArgfsTer?
XM_011528811.1:c.2109del	XP_011527113.1:p.Thr704ArgfsTer?
XM_011528812.1:c.2082del	XP_011527114.1:p.Thr695ArgfsTer?
XM_011528813.1:c.2067del	XP_011527115.1:p.Thr690ArgfsTer?
XM_011528814.1:c.1674del	XP_011527116.1:p.Thr559ArgfsTer?
NM_004518.5:c.2001del	NP_004509.2:p.Thr668ArgfsTer?
NM_172106.2:c.2031del	NP_742104.1:p.Thr678ArgfsTer?
NM_172107.3:c.2085del	NP_742105.1:p.Thr696ArgfsTer?
NM_172108.4:c.1992del	NP_742106.1:p.Thr665ArgfsTer?
XM_011528810.2:c.2139del	XP_011527112.1:p.Thr714ArgfsTer?
XM_011528811.2:c.2109del	XP_011527113.1:p.Thr704ArgfsTer?
XM_017027841.2:c.2136del	XP_016883330.1:p.Thr713ArgfsTer?
XM_017027842.2:c.2073del	XP_016883331.1:p.Thr692ArgfsTer?
XM_017027843.1:c.2070del	XP_016883332.1:p.Thr691ArgfsTer?
XM_017027844.2:c.2028del	XP_016883333.1:p.Thr677ArgfsTer?
XM_017027845.1:c.1101del	XP_016883334.1:p.Thr368ArgfsTer?
NM_004518.6:c.2001del	NP_004509.2:p.Thr668ArgfsTer?
NM_172106.3:c.2031del	NP_742104.1:p.Thr678ArgfsTer?
NM_172107.4:c.2085del MANE Select	NP_742105.1:p.Thr696ArgfsTer?
NM_172108.5:c.1992del	NP_742106.1:p.Thr665ArgfsTer?
NM_001382235.1:c.2139del	NP_001369164.1:p.Thr714ArgfsTer?