Canonical Allele Identifier: CA409638509

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038408G>C (hg19) ; chr20:g.63407055G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407055G>C , CM000682.2:g.63407055G>C	GRCh38
NC_000020.10:g.62038408G>C , CM000682.1:g.62038408G>C	GRCh37
NC_000020.9:g.61508852G>C	NCBI36
NG_009004.1:g.70586C>G
NG_009004.2:g.70586C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2262C>G	ENSP00000516702.1:p.His754Gln
ENST00000359125.7:c.2208C>G MANE Select	ENSP00000352035.2:p.His736Gln
ENST00000637193.1:c.1605C>G	ENSP00000490734.1:p.His535Gln
ENST00000344462.8:c.2115C>G	ENSP00000339611.4:p.His705Gln
ENST00000357249.6:c.1776C>G	ENSP00000349789.3:p.His592Gln
ENST00000359125.6:c.2208C>G	ENSP00000352035.2:p.His736Gln
ENST00000360480.7:c.2124C>G	ENSP00000353668.3:p.His708Gln
ENST00000370224.5:c.2232C>G	ENSP00000359244.2:p.His744Gln
ENST00000625514.2:c.2196C>G	ENSP00000486040.1:p.His732Gln
ENST00000626839.2:c.2154C>G	ENSP00000486706.1:p.His718Gln
ENST00000629241.2:c.2124C>G	ENSP00000487142.1:p.His708Gln
ENST00000629676.2:c.1680-6212C>G	ENSP00000486194.1:n.1680-6212C>G
NM_004518.4:c.2124C>G	NP_004509.2:p.His708Gln
NM_172106.1:c.2154C>G	NP_742104.1:p.His718Gln
NM_172107.2:c.2208C>G	NP_742105.1:p.His736Gln
NM_172108.3:c.2115C>G	NP_742106.1:p.His705Gln
XM_006723787.1:c.2250C>G	XP_006723850.1:p.His750Gln
XM_011528807.1:c.2316C>G	XP_011527109.1:p.His772Gln
XM_011528808.1:c.2313C>G	XP_011527110.1:p.His771Gln
XM_011528809.1:c.2286C>G	XP_011527111.1:p.His762Gln
XM_011528810.1:c.2262C>G	XP_011527112.1:p.His754Gln
XM_011528811.1:c.2232C>G	XP_011527113.1:p.His744Gln
XM_011528812.1:c.2205C>G	XP_011527114.1:p.His735Gln
XM_011528813.1:c.2190C>G	XP_011527115.1:p.His730Gln
XM_011528814.1:c.1797C>G	XP_011527116.1:p.His599Gln
NM_004518.5:c.2124C>G	NP_004509.2:p.His708Gln
NM_172106.2:c.2154C>G	NP_742104.1:p.His718Gln
NM_172107.3:c.2208C>G	NP_742105.1:p.His736Gln
NM_172108.4:c.2115C>G	NP_742106.1:p.His705Gln
XM_011528810.2:c.2262C>G	XP_011527112.1:p.His754Gln
XM_011528811.2:c.2232C>G	XP_011527113.1:p.His744Gln
XM_017027841.2:c.2259C>G	XP_016883330.1:p.His753Gln
XM_017027842.2:c.2196C>G	XP_016883331.1:p.His732Gln
XM_017027843.1:c.2193C>G	XP_016883332.1:p.His731Gln
XM_017027844.2:c.2151C>G	XP_016883333.1:p.His717Gln
XM_017027845.1:c.1224C>G	XP_016883334.1:p.His408Gln
NM_004518.6:c.2124C>G	NP_004509.2:p.His708Gln
NM_172106.3:c.2154C>G	NP_742104.1:p.His718Gln
NM_172107.4:c.2208C>G MANE Select	NP_742105.1:p.His736Gln
NM_172108.5:c.2115C>G	NP_742106.1:p.His705Gln
NM_001382235.1:c.2262C>G	NP_001369164.1:p.His754Gln