Canonical Allele Identifier: CA409639140

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038583T>G (hg19) ; chr20:g.63407230T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407230T>G , CM000682.2:g.63407230T>G	GRCh38
NC_000020.10:g.62038583T>G , CM000682.1:g.62038583T>G	GRCh37
NC_000020.9:g.61509027T>G	NCBI36
NG_009004.1:g.70411A>C
NG_009004.2:g.70411A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2087A>C	ENSP00000516702.1:p.Glu696Ala
ENST00000359125.7:c.2033A>C MANE Select	ENSP00000352035.2:p.Glu678Ala
ENST00000637193.1:c.1430A>C	ENSP00000490734.1:p.Glu477Ala
ENST00000344462.8:c.1940A>C	ENSP00000339611.4:p.Glu647Ala
ENST00000357249.6:c.1601A>C	ENSP00000349789.3:p.Glu534Ala
ENST00000359125.6:c.2033A>C	ENSP00000352035.2:p.Glu678Ala
ENST00000360480.7:c.1949A>C	ENSP00000353668.3:p.Glu650Ala
ENST00000370224.5:c.2057A>C	ENSP00000359244.2:p.Glu686Ala
ENST00000625514.2:c.2021A>C	ENSP00000486040.1:p.Glu674Ala
ENST00000626839.2:c.1979A>C	ENSP00000486706.1:p.Glu660Ala
ENST00000629241.2:c.1949A>C	ENSP00000487142.1:p.Glu650Ala
ENST00000629676.2:c.1679+6220A>C	ENSP00000486194.1:n.1679+6220A>C
NM_004518.4:c.1949A>C	NP_004509.2:p.Glu650Ala
NM_172106.1:c.1979A>C	NP_742104.1:p.Glu660Ala
NM_172107.2:c.2033A>C	NP_742105.1:p.Glu678Ala
NM_172108.3:c.1940A>C	NP_742106.1:p.Glu647Ala
XM_006723787.1:c.2075A>C	XP_006723850.1:p.Glu692Ala
XM_011528807.1:c.2141A>C	XP_011527109.1:p.Glu714Ala
XM_011528808.1:c.2138A>C	XP_011527110.1:p.Glu713Ala
XM_011528809.1:c.2111A>C	XP_011527111.1:p.Glu704Ala
XM_011528810.1:c.2087A>C	XP_011527112.1:p.Glu696Ala
XM_011528811.1:c.2057A>C	XP_011527113.1:p.Glu686Ala
XM_011528812.1:c.2030A>C	XP_011527114.1:p.Glu677Ala
XM_011528813.1:c.2015A>C	XP_011527115.1:p.Glu672Ala
XM_011528814.1:c.1622A>C	XP_011527116.1:p.Glu541Ala
NM_004518.5:c.1949A>C	NP_004509.2:p.Glu650Ala
NM_172106.2:c.1979A>C	NP_742104.1:p.Glu660Ala
NM_172107.3:c.2033A>C	NP_742105.1:p.Glu678Ala
NM_172108.4:c.1940A>C	NP_742106.1:p.Glu647Ala
XM_011528810.2:c.2087A>C	XP_011527112.1:p.Glu696Ala
XM_011528811.2:c.2057A>C	XP_011527113.1:p.Glu686Ala
XM_017027841.2:c.2084A>C	XP_016883330.1:p.Glu695Ala
XM_017027842.2:c.2021A>C	XP_016883331.1:p.Glu674Ala
XM_017027843.1:c.2018A>C	XP_016883332.1:p.Glu673Ala
XM_017027844.2:c.1976A>C	XP_016883333.1:p.Glu659Ala
XM_017027845.1:c.1049A>C	XP_016883334.1:p.Glu350Ala
NM_004518.6:c.1949A>C	NP_004509.2:p.Glu650Ala
NM_172106.3:c.1979A>C	NP_742104.1:p.Glu660Ala
NM_172107.4:c.2033A>C MANE Select	NP_742105.1:p.Glu678Ala
NM_172108.5:c.1940A>C	NP_742106.1:p.Glu647Ala
NM_001382235.1:c.2087A>C	NP_001369164.1:p.Glu696Ala