Canonical Allele Identifier: CA409638910

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038485G>C (hg19) ; chr20:g.63407132G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407132G>C , CM000682.2:g.63407132G>C	GRCh38
NC_000020.10:g.62038485G>C , CM000682.1:g.62038485G>C	GRCh37
NC_000020.9:g.61508929G>C	NCBI36
NG_009004.1:g.70509C>G
NG_009004.2:g.70509C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2185C>G	ENSP00000516702.1:p.Gln729Glu
ENST00000359125.7:c.2131C>G MANE Select	ENSP00000352035.2:p.Gln711Glu
ENST00000637193.1:c.1528C>G	ENSP00000490734.1:p.Gln510Glu
ENST00000344462.8:c.2038C>G	ENSP00000339611.4:p.Gln680Glu
ENST00000357249.6:c.1699C>G	ENSP00000349789.3:p.Gln567Glu
ENST00000359125.6:c.2131C>G	ENSP00000352035.2:p.Gln711Glu
ENST00000360480.7:c.2047C>G	ENSP00000353668.3:p.Gln683Glu
ENST00000370224.5:c.2155C>G	ENSP00000359244.2:p.Gln719Glu
ENST00000625514.2:c.2119C>G	ENSP00000486040.1:p.Gln707Glu
ENST00000626839.2:c.2077C>G	ENSP00000486706.1:p.Gln693Glu
ENST00000629241.2:c.2047C>G	ENSP00000487142.1:p.Gln683Glu
ENST00000629676.2:c.1680-6289C>G	ENSP00000486194.1:n.1680-6289C>G
NM_004518.4:c.2047C>G	NP_004509.2:p.Gln683Glu
NM_172106.1:c.2077C>G	NP_742104.1:p.Gln693Glu
NM_172107.2:c.2131C>G	NP_742105.1:p.Gln711Glu
NM_172108.3:c.2038C>G	NP_742106.1:p.Gln680Glu
XM_006723787.1:c.2173C>G	XP_006723850.1:p.Gln725Glu
XM_011528807.1:c.2239C>G	XP_011527109.1:p.Gln747Glu
XM_011528808.1:c.2236C>G	XP_011527110.1:p.Gln746Glu
XM_011528809.1:c.2209C>G	XP_011527111.1:p.Gln737Glu
XM_011528810.1:c.2185C>G	XP_011527112.1:p.Gln729Glu
XM_011528811.1:c.2155C>G	XP_011527113.1:p.Gln719Glu
XM_011528812.1:c.2128C>G	XP_011527114.1:p.Gln710Glu
XM_011528813.1:c.2113C>G	XP_011527115.1:p.Gln705Glu
XM_011528814.1:c.1720C>G	XP_011527116.1:p.Gln574Glu
NM_004518.5:c.2047C>G	NP_004509.2:p.Gln683Glu
NM_172106.2:c.2077C>G	NP_742104.1:p.Gln693Glu
NM_172107.3:c.2131C>G	NP_742105.1:p.Gln711Glu
NM_172108.4:c.2038C>G	NP_742106.1:p.Gln680Glu
XM_011528810.2:c.2185C>G	XP_011527112.1:p.Gln729Glu
XM_011528811.2:c.2155C>G	XP_011527113.1:p.Gln719Glu
XM_017027841.2:c.2182C>G	XP_016883330.1:p.Gln728Glu
XM_017027842.2:c.2119C>G	XP_016883331.1:p.Gln707Glu
XM_017027843.1:c.2116C>G	XP_016883332.1:p.Gln706Glu
XM_017027844.2:c.2074C>G	XP_016883333.1:p.Gln692Glu
XM_017027845.1:c.1147C>G	XP_016883334.1:p.Gln383Glu
NM_004518.6:c.2047C>G	NP_004509.2:p.Gln683Glu
NM_172106.3:c.2077C>G	NP_742104.1:p.Gln693Glu
NM_172107.4:c.2131C>G MANE Select	NP_742105.1:p.Gln711Glu
NM_172108.5:c.2038C>G	NP_742106.1:p.Gln680Glu
NM_001382235.1:c.2185C>G	NP_001369164.1:p.Gln729Glu