Canonical Allele Identifier: CA409637111

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038185T>A (hg19) ; chr20:g.63406832T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406832T>A , CM000682.2:g.63406832T>A	GRCh38
NC_000020.10:g.62038185T>A , CM000682.1:g.62038185T>A	GRCh37
NC_000020.9:g.61508629T>A	NCBI36
NG_009004.1:g.70809A>T
NG_009004.2:g.70809A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2485A>T	ENSP00000516702.1:p.Lys829Ter
ENST00000359125.7:c.2431A>T MANE Select	ENSP00000352035.2:p.Lys811Ter
ENST00000637193.1:c.1828A>T	ENSP00000490734.1:p.Lys610Ter
ENST00000344462.8:c.2338A>T	ENSP00000339611.4:p.Lys780Ter
ENST00000357249.6:c.1999A>T	ENSP00000349789.3:p.Lys667Ter
ENST00000359125.6:c.2431A>T	ENSP00000352035.2:p.Lys811Ter
ENST00000360480.7:c.2347A>T	ENSP00000353668.3:p.Lys783Ter
ENST00000370224.5:c.2241+214A>T	ENSP00000359244.2:n.2241+214A>T
ENST00000625514.2:c.2205+214A>T	ENSP00000486040.1:n.2205+214A>T
ENST00000626839.2:c.2377A>T	ENSP00000486706.1:p.Lys793Ter
ENST00000629241.2:c.2133+214A>T	ENSP00000487142.1:n.2133+214A>T
ENST00000629676.2:c.1680-5989A>T	ENSP00000486194.1:n.1680-5989A>T
NM_004518.4:c.2347A>T	NP_004509.2:p.Lys783Ter
NM_172106.1:c.2377A>T	NP_742104.1:p.Lys793Ter
NM_172107.2:c.2431A>T	NP_742105.1:p.Lys811Ter
NM_172108.3:c.2338A>T	NP_742106.1:p.Lys780Ter
XM_006723787.1:c.2473A>T	XP_006723850.1:p.Lys825Ter
XM_011528807.1:c.2539A>T	XP_011527109.1:p.Lys847Ter
XM_011528808.1:c.2536A>T	XP_011527110.1:p.Lys846Ter
XM_011528809.1:c.2509A>T	XP_011527111.1:p.Lys837Ter
XM_011528810.1:c.2485A>T	XP_011527112.1:p.Lys829Ter
XM_011528811.1:c.2455A>T	XP_011527113.1:p.Lys819Ter
XM_011528812.1:c.2428A>T	XP_011527114.1:p.Lys810Ter
XM_011528813.1:c.2413A>T	XP_011527115.1:p.Lys805Ter
XM_011528814.1:c.2020A>T	XP_011527116.1:p.Lys674Ter
NM_004518.5:c.2347A>T	NP_004509.2:p.Lys783Ter
NM_172106.2:c.2377A>T	NP_742104.1:p.Lys793Ter
NM_172107.3:c.2431A>T	NP_742105.1:p.Lys811Ter
NM_172108.4:c.2338A>T	NP_742106.1:p.Lys780Ter
XM_011528810.2:c.2485A>T	XP_011527112.1:p.Lys829Ter
XM_011528811.2:c.2455A>T	XP_011527113.1:p.Lys819Ter
XM_017027841.2:c.2482A>T	XP_016883330.1:p.Lys828Ter
XM_017027842.2:c.2419A>T	XP_016883331.1:p.Lys807Ter
XM_017027843.1:c.2416A>T	XP_016883332.1:p.Lys806Ter
XM_017027844.2:c.2374A>T	XP_016883333.1:p.Lys792Ter
XM_017027845.1:c.1447A>T	XP_016883334.1:p.Lys483Ter
NM_004518.6:c.2347A>T	NP_004509.2:p.Lys783Ter
NM_172106.3:c.2377A>T	NP_742104.1:p.Lys793Ter
NM_172107.4:c.2431A>T MANE Select	NP_742105.1:p.Lys811Ter
NM_172108.5:c.2338A>T	NP_742106.1:p.Lys780Ter
NM_001382235.1:c.2485A>T	NP_001369164.1:p.Lys829Ter