Canonical Allele Identifier: CA409639115

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038573G>C (hg19) ; chr20:g.63407220G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407220G>C , CM000682.2:g.63407220G>C	GRCh38
NC_000020.10:g.62038573G>C , CM000682.1:g.62038573G>C	GRCh37
NC_000020.9:g.61509017G>C	NCBI36
NG_009004.1:g.70421C>G
NG_009004.2:g.70421C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2097C>G	ENSP00000516702.1:p.Asp699Glu
ENST00000359125.7:c.2043C>G MANE Select	ENSP00000352035.2:p.Asp681Glu
ENST00000637193.1:c.1440C>G	ENSP00000490734.1:p.Asp480Glu
ENST00000344462.8:c.1950C>G	ENSP00000339611.4:p.Asp650Glu
ENST00000357249.6:c.1611C>G	ENSP00000349789.3:p.Asp537Glu
ENST00000359125.6:c.2043C>G	ENSP00000352035.2:p.Asp681Glu
ENST00000360480.7:c.1959C>G	ENSP00000353668.3:p.Asp653Glu
ENST00000370224.5:c.2067C>G	ENSP00000359244.2:p.Asp689Glu
ENST00000625514.2:c.2031C>G	ENSP00000486040.1:p.Asp677Glu
ENST00000626839.2:c.1989C>G	ENSP00000486706.1:p.Asp663Glu
ENST00000629241.2:c.1959C>G	ENSP00000487142.1:p.Asp653Glu
ENST00000629676.2:c.1679+6230C>G	ENSP00000486194.1:n.1679+6230C>G
NM_004518.4:c.1959C>G	NP_004509.2:p.Asp653Glu
NM_172106.1:c.1989C>G	NP_742104.1:p.Asp663Glu
NM_172107.2:c.2043C>G	NP_742105.1:p.Asp681Glu
NM_172108.3:c.1950C>G	NP_742106.1:p.Asp650Glu
XM_006723787.1:c.2085C>G	XP_006723850.1:p.Asp695Glu
XM_011528807.1:c.2151C>G	XP_011527109.1:p.Asp717Glu
XM_011528808.1:c.2148C>G	XP_011527110.1:p.Asp716Glu
XM_011528809.1:c.2121C>G	XP_011527111.1:p.Asp707Glu
XM_011528810.1:c.2097C>G	XP_011527112.1:p.Asp699Glu
XM_011528811.1:c.2067C>G	XP_011527113.1:p.Asp689Glu
XM_011528812.1:c.2040C>G	XP_011527114.1:p.Asp680Glu
XM_011528813.1:c.2025C>G	XP_011527115.1:p.Asp675Glu
XM_011528814.1:c.1632C>G	XP_011527116.1:p.Asp544Glu
NM_004518.5:c.1959C>G	NP_004509.2:p.Asp653Glu
NM_172106.2:c.1989C>G	NP_742104.1:p.Asp663Glu
NM_172107.3:c.2043C>G	NP_742105.1:p.Asp681Glu
NM_172108.4:c.1950C>G	NP_742106.1:p.Asp650Glu
XM_011528810.2:c.2097C>G	XP_011527112.1:p.Asp699Glu
XM_011528811.2:c.2067C>G	XP_011527113.1:p.Asp689Glu
XM_017027841.2:c.2094C>G	XP_016883330.1:p.Asp698Glu
XM_017027842.2:c.2031C>G	XP_016883331.1:p.Asp677Glu
XM_017027843.1:c.2028C>G	XP_016883332.1:p.Asp676Glu
XM_017027844.2:c.1986C>G	XP_016883333.1:p.Asp662Glu
XM_017027845.1:c.1059C>G	XP_016883334.1:p.Asp353Glu
NM_004518.6:c.1959C>G	NP_004509.2:p.Asp653Glu
NM_172106.3:c.1989C>G	NP_742104.1:p.Asp663Glu
NM_172107.4:c.2043C>G MANE Select	NP_742105.1:p.Asp681Glu
NM_172108.5:c.1950C>G	NP_742106.1:p.Asp650Glu
NM_001382235.1:c.2097C>G	NP_001369164.1:p.Asp699Glu