Canonical Allele Identifier: CA409637098

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038183C>A (hg19) ; chr20:g.63406830C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406830C>A , CM000682.2:g.63406830C>A	GRCh38
NC_000020.10:g.62038183C>A , CM000682.1:g.62038183C>A	GRCh37
NC_000020.9:g.61508627C>A	NCBI36
NG_009004.1:g.70811G>T
NG_009004.2:g.70811G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2487G>T	ENSP00000516702.1:p.Lys829Asn
ENST00000359125.7:c.2433G>T MANE Select	ENSP00000352035.2:p.Lys811Asn
ENST00000637193.1:c.1830G>T	ENSP00000490734.1:p.Lys610Asn
ENST00000344462.8:c.2340G>T	ENSP00000339611.4:p.Lys780Asn
ENST00000357249.6:c.2001G>T	ENSP00000349789.3:p.Lys667Asn
ENST00000359125.6:c.2433G>T	ENSP00000352035.2:p.Lys811Asn
ENST00000360480.7:c.2349G>T	ENSP00000353668.3:p.Lys783Asn
ENST00000370224.5:c.2241+216G>T	ENSP00000359244.2:n.2241+216G>T
ENST00000625514.2:c.2205+216G>T	ENSP00000486040.1:n.2205+216G>T
ENST00000626839.2:c.2379G>T	ENSP00000486706.1:p.Lys793Asn
ENST00000629241.2:c.2133+216G>T	ENSP00000487142.1:n.2133+216G>T
ENST00000629676.2:c.1680-5987G>T	ENSP00000486194.1:n.1680-5987G>T
NM_004518.4:c.2349G>T	NP_004509.2:p.Lys783Asn
NM_172106.1:c.2379G>T	NP_742104.1:p.Lys793Asn
NM_172107.2:c.2433G>T	NP_742105.1:p.Lys811Asn
NM_172108.3:c.2340G>T	NP_742106.1:p.Lys780Asn
XM_006723787.1:c.2475G>T	XP_006723850.1:p.Lys825Asn
XM_011528807.1:c.2541G>T	XP_011527109.1:p.Lys847Asn
XM_011528808.1:c.2538G>T	XP_011527110.1:p.Lys846Asn
XM_011528809.1:c.2511G>T	XP_011527111.1:p.Lys837Asn
XM_011528810.1:c.2487G>T	XP_011527112.1:p.Lys829Asn
XM_011528811.1:c.2457G>T	XP_011527113.1:p.Lys819Asn
XM_011528812.1:c.2430G>T	XP_011527114.1:p.Lys810Asn
XM_011528813.1:c.2415G>T	XP_011527115.1:p.Lys805Asn
XM_011528814.1:c.2022G>T	XP_011527116.1:p.Lys674Asn
NM_004518.5:c.2349G>T	NP_004509.2:p.Lys783Asn
NM_172106.2:c.2379G>T	NP_742104.1:p.Lys793Asn
NM_172107.3:c.2433G>T	NP_742105.1:p.Lys811Asn
NM_172108.4:c.2340G>T	NP_742106.1:p.Lys780Asn
XM_011528810.2:c.2487G>T	XP_011527112.1:p.Lys829Asn
XM_011528811.2:c.2457G>T	XP_011527113.1:p.Lys819Asn
XM_017027841.2:c.2484G>T	XP_016883330.1:p.Lys828Asn
XM_017027842.2:c.2421G>T	XP_016883331.1:p.Lys807Asn
XM_017027843.1:c.2418G>T	XP_016883332.1:p.Lys806Asn
XM_017027844.2:c.2376G>T	XP_016883333.1:p.Lys792Asn
XM_017027845.1:c.1449G>T	XP_016883334.1:p.Lys483Asn
NM_004518.6:c.2349G>T	NP_004509.2:p.Lys783Asn
NM_172106.3:c.2379G>T	NP_742104.1:p.Lys793Asn
NM_172107.4:c.2433G>T MANE Select	NP_742105.1:p.Lys811Asn
NM_172108.5:c.2340G>T	NP_742106.1:p.Lys780Asn
NM_001382235.1:c.2487G>T	NP_001369164.1:p.Lys829Asn