Canonical Allele Identifier: CA409636396

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038019C>G (hg19) ; chr20:g.63406666C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406666C>G , CM000682.2:g.63406666C>G	GRCh38
NC_000020.10:g.62038019C>G , CM000682.1:g.62038019C>G	GRCh37
NC_000020.9:g.61508463C>G	NCBI36
NG_009004.1:g.70975G>C
NG_009004.2:g.70975G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2651G>C	ENSP00000516702.1:p.Gly884Ala
ENST00000359125.7:c.2597G>C MANE Select	ENSP00000352035.2:p.Gly866Ala
ENST00000637193.1:c.1994G>C	ENSP00000490734.1:p.Gly665Ala
ENST00000344462.8:c.2504G>C	ENSP00000339611.4:p.Gly835Ala
ENST00000357249.6:c.2165G>C	ENSP00000349789.3:p.Gly722Ala
ENST00000359125.6:c.2597G>C	ENSP00000352035.2:p.Gly866Ala
ENST00000360480.7:c.2513G>C	ENSP00000353668.3:p.Gly838Ala
ENST00000370224.5:c.2241+380G>C	ENSP00000359244.2:n.2241+380G>C
ENST00000625514.2:c.2205+380G>C	ENSP00000486040.1:n.2205+380G>C
ENST00000626839.2:c.2543G>C	ENSP00000486706.1:p.Gly848Ala
ENST00000629241.2:c.2133+380G>C	ENSP00000487142.1:n.2133+380G>C
ENST00000629676.2:c.1680-5823G>C	ENSP00000486194.1:n.1680-5823G>C
NM_004518.4:c.2513G>C	NP_004509.2:p.Gly838Ala
NM_172106.1:c.2543G>C	NP_742104.1:p.Gly848Ala
NM_172107.2:c.2597G>C	NP_742105.1:p.Gly866Ala
NM_172108.3:c.2504G>C	NP_742106.1:p.Gly835Ala
XM_006723787.1:c.2639G>C	XP_006723850.1:p.Gly880Ala
XM_011528807.1:c.2705G>C	XP_011527109.1:p.Gly902Ala
XM_011528808.1:c.2702G>C	XP_011527110.1:p.Gly901Ala
XM_011528809.1:c.2675G>C	XP_011527111.1:p.Gly892Ala
XM_011528810.1:c.2651G>C	XP_011527112.1:p.Gly884Ala
XM_011528811.1:c.2621G>C	XP_011527113.1:p.Gly874Ala
XM_011528812.1:c.2594G>C	XP_011527114.1:p.Gly865Ala
XM_011528813.1:c.2579G>C	XP_011527115.1:p.Gly860Ala
XM_011528814.1:c.2186G>C	XP_011527116.1:p.Gly729Ala
NM_004518.5:c.2513G>C	NP_004509.2:p.Gly838Ala
NM_172106.2:c.2543G>C	NP_742104.1:p.Gly848Ala
NM_172107.3:c.2597G>C	NP_742105.1:p.Gly866Ala
NM_172108.4:c.2504G>C	NP_742106.1:p.Gly835Ala
XM_011528810.2:c.2651G>C	XP_011527112.1:p.Gly884Ala
XM_011528811.2:c.2621G>C	XP_011527113.1:p.Gly874Ala
XM_017027841.2:c.2648G>C	XP_016883330.1:p.Gly883Ala
XM_017027842.2:c.2585G>C	XP_016883331.1:p.Gly862Ala
XM_017027843.1:c.2582G>C	XP_016883332.1:p.Gly861Ala
XM_017027844.2:c.2540G>C	XP_016883333.1:p.Gly847Ala
XM_017027845.1:c.1613G>C	XP_016883334.1:p.Gly538Ala
NM_004518.6:c.2513G>C	NP_004509.2:p.Gly838Ala
NM_172106.3:c.2543G>C	NP_742104.1:p.Gly848Ala
NM_172107.4:c.2597G>C MANE Select	NP_742105.1:p.Gly866Ala
NM_172108.5:c.2504G>C	NP_742106.1:p.Gly835Ala
NM_001382235.1:c.2651G>C	NP_001369164.1:p.Gly884Ala