Canonical Allele Identifier: CA409638070

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038339G>C (hg19) ; chr20:g.63406986G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406986G>C , CM000682.2:g.63406986G>C	GRCh38
NC_000020.10:g.62038339G>C , CM000682.1:g.62038339G>C	GRCh37
NC_000020.9:g.61508783G>C	NCBI36
NG_009004.1:g.70655C>G
NG_009004.2:g.70655C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2331C>G	ENSP00000516702.1:p.Asn777Lys
ENST00000359125.7:c.2277C>G MANE Select	ENSP00000352035.2:p.Asn759Lys
ENST00000637193.1:c.1674C>G	ENSP00000490734.1:p.Asn558Lys
ENST00000344462.8:c.2184C>G	ENSP00000339611.4:p.Asn728Lys
ENST00000357249.6:c.1845C>G	ENSP00000349789.3:p.Asn615Lys
ENST00000359125.6:c.2277C>G	ENSP00000352035.2:p.Asn759Lys
ENST00000360480.7:c.2193C>G	ENSP00000353668.3:p.Asn731Lys
ENST00000370224.5:c.2241+60C>G	ENSP00000359244.2:n.2241+60C>G
ENST00000625514.2:c.2205+60C>G	ENSP00000486040.1:n.2205+60C>G
ENST00000626839.2:c.2223C>G	ENSP00000486706.1:p.Asn741Lys
ENST00000629241.2:c.2133+60C>G	ENSP00000487142.1:n.2133+60C>G
ENST00000629676.2:c.1680-6143C>G	ENSP00000486194.1:n.1680-6143C>G
NM_004518.4:c.2193C>G	NP_004509.2:p.Asn731Lys
NM_172106.1:c.2223C>G	NP_742104.1:p.Asn741Lys
NM_172107.2:c.2277C>G	NP_742105.1:p.Asn759Lys
NM_172108.3:c.2184C>G	NP_742106.1:p.Asn728Lys
XM_006723787.1:c.2319C>G	XP_006723850.1:p.Asn773Lys
XM_011528807.1:c.2385C>G	XP_011527109.1:p.Asn795Lys
XM_011528808.1:c.2382C>G	XP_011527110.1:p.Asn794Lys
XM_011528809.1:c.2355C>G	XP_011527111.1:p.Asn785Lys
XM_011528810.1:c.2331C>G	XP_011527112.1:p.Asn777Lys
XM_011528811.1:c.2301C>G	XP_011527113.1:p.Asn767Lys
XM_011528812.1:c.2274C>G	XP_011527114.1:p.Asn758Lys
XM_011528813.1:c.2259C>G	XP_011527115.1:p.Asn753Lys
XM_011528814.1:c.1866C>G	XP_011527116.1:p.Asn622Lys
NM_004518.5:c.2193C>G	NP_004509.2:p.Asn731Lys
NM_172106.2:c.2223C>G	NP_742104.1:p.Asn741Lys
NM_172107.3:c.2277C>G	NP_742105.1:p.Asn759Lys
NM_172108.4:c.2184C>G	NP_742106.1:p.Asn728Lys
XM_011528810.2:c.2331C>G	XP_011527112.1:p.Asn777Lys
XM_011528811.2:c.2301C>G	XP_011527113.1:p.Asn767Lys
XM_017027841.2:c.2328C>G	XP_016883330.1:p.Asn776Lys
XM_017027842.2:c.2265C>G	XP_016883331.1:p.Asn755Lys
XM_017027843.1:c.2262C>G	XP_016883332.1:p.Asn754Lys
XM_017027844.2:c.2220C>G	XP_016883333.1:p.Asn740Lys
XM_017027845.1:c.1293C>G	XP_016883334.1:p.Asn431Lys
NM_004518.6:c.2193C>G	NP_004509.2:p.Asn731Lys
NM_172106.3:c.2223C>G	NP_742104.1:p.Asn741Lys
NM_172107.4:c.2277C>G MANE Select	NP_742105.1:p.Asn759Lys
NM_172108.5:c.2184C>G	NP_742106.1:p.Asn728Lys
NM_001382235.1:c.2331C>G	NP_001369164.1:p.Asn777Lys