Canonical Allele Identifier: CA409639049

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038542A>C (hg19) ; chr20:g.63407189A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407189A>C , CM000682.2:g.63407189A>C	GRCh38
NC_000020.10:g.62038542A>C , CM000682.1:g.62038542A>C	GRCh37
NC_000020.9:g.61508986A>C	NCBI36
NG_009004.1:g.70452T>G
NG_009004.2:g.70452T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2128T>G	ENSP00000516702.1:p.Ser710Ala
ENST00000359125.7:c.2074T>G MANE Select	ENSP00000352035.2:p.Ser692Ala
ENST00000637193.1:c.1471T>G	ENSP00000490734.1:p.Ser491Ala
ENST00000344462.8:c.1981T>G	ENSP00000339611.4:p.Ser661Ala
ENST00000357249.6:c.1642T>G	ENSP00000349789.3:p.Ser548Ala
ENST00000359125.6:c.2074T>G	ENSP00000352035.2:p.Ser692Ala
ENST00000360480.7:c.1990T>G	ENSP00000353668.3:p.Ser664Ala
ENST00000370224.5:c.2098T>G	ENSP00000359244.2:p.Ser700Ala
ENST00000625514.2:c.2062T>G	ENSP00000486040.1:p.Ser688Ala
ENST00000626839.2:c.2020T>G	ENSP00000486706.1:p.Ser674Ala
ENST00000629241.2:c.1990T>G	ENSP00000487142.1:p.Ser664Ala
ENST00000629676.2:c.1679+6261T>G	ENSP00000486194.1:n.1679+6261T>G
NM_004518.4:c.1990T>G	NP_004509.2:p.Ser664Ala
NM_172106.1:c.2020T>G	NP_742104.1:p.Ser674Ala
NM_172107.2:c.2074T>G	NP_742105.1:p.Ser692Ala
NM_172108.3:c.1981T>G	NP_742106.1:p.Ser661Ala
XM_006723787.1:c.2116T>G	XP_006723850.1:p.Ser706Ala
XM_011528807.1:c.2182T>G	XP_011527109.1:p.Ser728Ala
XM_011528808.1:c.2179T>G	XP_011527110.1:p.Ser727Ala
XM_011528809.1:c.2152T>G	XP_011527111.1:p.Ser718Ala
XM_011528810.1:c.2128T>G	XP_011527112.1:p.Ser710Ala
XM_011528811.1:c.2098T>G	XP_011527113.1:p.Ser700Ala
XM_011528812.1:c.2071T>G	XP_011527114.1:p.Ser691Ala
XM_011528813.1:c.2056T>G	XP_011527115.1:p.Ser686Ala
XM_011528814.1:c.1663T>G	XP_011527116.1:p.Ser555Ala
NM_004518.5:c.1990T>G	NP_004509.2:p.Ser664Ala
NM_172106.2:c.2020T>G	NP_742104.1:p.Ser674Ala
NM_172107.3:c.2074T>G	NP_742105.1:p.Ser692Ala
NM_172108.4:c.1981T>G	NP_742106.1:p.Ser661Ala
XM_011528810.2:c.2128T>G	XP_011527112.1:p.Ser710Ala
XM_011528811.2:c.2098T>G	XP_011527113.1:p.Ser700Ala
XM_017027841.2:c.2125T>G	XP_016883330.1:p.Ser709Ala
XM_017027842.2:c.2062T>G	XP_016883331.1:p.Ser688Ala
XM_017027843.1:c.2059T>G	XP_016883332.1:p.Ser687Ala
XM_017027844.2:c.2017T>G	XP_016883333.1:p.Ser673Ala
XM_017027845.1:c.1090T>G	XP_016883334.1:p.Ser364Ala
NM_004518.6:c.1990T>G	NP_004509.2:p.Ser664Ala
NM_172106.3:c.2020T>G	NP_742104.1:p.Ser674Ala
NM_172107.4:c.2074T>G MANE Select	NP_742105.1:p.Ser692Ala
NM_172108.5:c.1981T>G	NP_742106.1:p.Ser661Ala
NM_001382235.1:c.2128T>G	NP_001369164.1:p.Ser710Ala