Canonical Allele Identifier: CA409637830

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406949-G-A
• MyVariant Identifiers: chr20:g.62038302G>A (hg19) ; chr20:g.63406949G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406949G>A , CM000682.2:g.63406949G>A	GRCh38
NC_000020.10:g.62038302G>A , CM000682.1:g.62038302G>A	GRCh37
NC_000020.9:g.61508746G>A	NCBI36
NG_009004.1:g.70692C>T
NG_009004.2:g.70692C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2368C>T	ENSP00000516702.1:p.Pro790Ser
ENST00000359125.7:c.2314C>T MANE Select	ENSP00000352035.2:p.Pro772Ser
ENST00000637193.1:c.1711C>T	ENSP00000490734.1:p.Pro571Ser
ENST00000344462.8:c.2221C>T	ENSP00000339611.4:p.Pro741Ser
ENST00000357249.6:c.1882C>T	ENSP00000349789.3:p.Pro628Ser
ENST00000359125.6:c.2314C>T	ENSP00000352035.2:p.Pro772Ser
ENST00000360480.7:c.2230C>T	ENSP00000353668.3:p.Pro744Ser
ENST00000370224.5:c.2241+97C>T	ENSP00000359244.2:n.2241+97C>T
ENST00000625514.2:c.2205+97C>T	ENSP00000486040.1:n.2205+97C>T
ENST00000626839.2:c.2260C>T	ENSP00000486706.1:p.Pro754Ser
ENST00000629241.2:c.2133+97C>T	ENSP00000487142.1:n.2133+97C>T
ENST00000629676.2:c.1680-6106C>T	ENSP00000486194.1:n.1680-6106C>T
NM_004518.4:c.2230C>T	NP_004509.2:p.Pro744Ser
NM_172106.1:c.2260C>T	NP_742104.1:p.Pro754Ser
NM_172107.2:c.2314C>T	NP_742105.1:p.Pro772Ser
NM_172108.3:c.2221C>T	NP_742106.1:p.Pro741Ser
XM_006723787.1:c.2356C>T	XP_006723850.1:p.Pro786Ser
XM_011528807.1:c.2422C>T	XP_011527109.1:p.Pro808Ser
XM_011528808.1:c.2419C>T	XP_011527110.1:p.Pro807Ser
XM_011528809.1:c.2392C>T	XP_011527111.1:p.Pro798Ser
XM_011528810.1:c.2368C>T	XP_011527112.1:p.Pro790Ser
XM_011528811.1:c.2338C>T	XP_011527113.1:p.Pro780Ser
XM_011528812.1:c.2311C>T	XP_011527114.1:p.Pro771Ser
XM_011528813.1:c.2296C>T	XP_011527115.1:p.Pro766Ser
XM_011528814.1:c.1903C>T	XP_011527116.1:p.Pro635Ser
NM_004518.5:c.2230C>T	NP_004509.2:p.Pro744Ser
NM_172106.2:c.2260C>T	NP_742104.1:p.Pro754Ser
NM_172107.3:c.2314C>T	NP_742105.1:p.Pro772Ser
NM_172108.4:c.2221C>T	NP_742106.1:p.Pro741Ser
XM_011528810.2:c.2368C>T	XP_011527112.1:p.Pro790Ser
XM_011528811.2:c.2338C>T	XP_011527113.1:p.Pro780Ser
XM_017027841.2:c.2365C>T	XP_016883330.1:p.Pro789Ser
XM_017027842.2:c.2302C>T	XP_016883331.1:p.Pro768Ser
XM_017027843.1:c.2299C>T	XP_016883332.1:p.Pro767Ser
XM_017027844.2:c.2257C>T	XP_016883333.1:p.Pro753Ser
XM_017027845.1:c.1330C>T	XP_016883334.1:p.Pro444Ser
NM_004518.6:c.2230C>T	NP_004509.2:p.Pro744Ser
NM_172106.3:c.2260C>T	NP_742104.1:p.Pro754Ser
NM_172107.4:c.2314C>T MANE Select	NP_742105.1:p.Pro772Ser
NM_172108.5:c.2221C>T	NP_742106.1:p.Pro741Ser
NM_001382235.1:c.2368C>T	NP_001369164.1:p.Pro790Ser