Canonical Allele Identifier: CA409639189

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038605G>A (hg19) ; chr20:g.63407252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407252G>A , CM000682.2:g.63407252G>A	GRCh38
NC_000020.10:g.62038605G>A , CM000682.1:g.62038605G>A	GRCh37
NC_000020.9:g.61509049G>A	NCBI36
NG_009004.1:g.70389C>T
NG_009004.2:g.70389C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2065C>T	ENSP00000516702.1:p.His689Tyr
ENST00000359125.7:c.2011C>T MANE Select	ENSP00000352035.2:p.His671Tyr
ENST00000637193.1:c.1408C>T	ENSP00000490734.1:p.His470Tyr
ENST00000344462.8:c.1918C>T	ENSP00000339611.4:p.His640Tyr
ENST00000357249.6:c.1579C>T	ENSP00000349789.3:p.His527Tyr
ENST00000359125.6:c.2011C>T	ENSP00000352035.2:p.His671Tyr
ENST00000360480.7:c.1927C>T	ENSP00000353668.3:p.His643Tyr
ENST00000370224.5:c.2035C>T	ENSP00000359244.2:p.His679Tyr
ENST00000625514.2:c.1999C>T	ENSP00000486040.1:p.His667Tyr
ENST00000626839.2:c.1957C>T	ENSP00000486706.1:p.His653Tyr
ENST00000629241.2:c.1927C>T	ENSP00000487142.1:p.His643Tyr
ENST00000629676.2:c.1679+6198C>T	ENSP00000486194.1:n.1679+6198C>T
NM_004518.4:c.1927C>T	NP_004509.2:p.His643Tyr
NM_172106.1:c.1957C>T	NP_742104.1:p.His653Tyr
NM_172107.2:c.2011C>T	NP_742105.1:p.His671Tyr
NM_172108.3:c.1918C>T	NP_742106.1:p.His640Tyr
XM_006723787.1:c.2053C>T	XP_006723850.1:p.His685Tyr
XM_011528807.1:c.2119C>T	XP_011527109.1:p.His707Tyr
XM_011528808.1:c.2116C>T	XP_011527110.1:p.His706Tyr
XM_011528809.1:c.2089C>T	XP_011527111.1:p.His697Tyr
XM_011528810.1:c.2065C>T	XP_011527112.1:p.His689Tyr
XM_011528811.1:c.2035C>T	XP_011527113.1:p.His679Tyr
XM_011528812.1:c.2008C>T	XP_011527114.1:p.His670Tyr
XM_011528813.1:c.1993C>T	XP_011527115.1:p.His665Tyr
XM_011528814.1:c.1600C>T	XP_011527116.1:p.His534Tyr
NM_004518.5:c.1927C>T	NP_004509.2:p.His643Tyr
NM_172106.2:c.1957C>T	NP_742104.1:p.His653Tyr
NM_172107.3:c.2011C>T	NP_742105.1:p.His671Tyr
NM_172108.4:c.1918C>T	NP_742106.1:p.His640Tyr
XM_011528810.2:c.2065C>T	XP_011527112.1:p.His689Tyr
XM_011528811.2:c.2035C>T	XP_011527113.1:p.His679Tyr
XM_017027841.2:c.2062C>T	XP_016883330.1:p.His688Tyr
XM_017027842.2:c.1999C>T	XP_016883331.1:p.His667Tyr
XM_017027843.1:c.1996C>T	XP_016883332.1:p.His666Tyr
XM_017027844.2:c.1954C>T	XP_016883333.1:p.His652Tyr
XM_017027845.1:c.1027C>T	XP_016883334.1:p.His343Tyr
NM_004518.6:c.1927C>T	NP_004509.2:p.His643Tyr
NM_172106.3:c.1957C>T	NP_742104.1:p.His653Tyr
NM_172107.4:c.2011C>T MANE Select	NP_742105.1:p.His671Tyr
NM_172108.5:c.1918C>T	NP_742106.1:p.His640Tyr
NM_001382235.1:c.2065C>T	NP_001369164.1:p.His689Tyr