Canonical Allele Identifier: CA409637445

Gene: KCNQ2

Linked Data

• COSMIC: COSM4479923 ; COSM4479924 ; COSM4479925
• MyVariant Identifiers: chr20:g.62038245G>A (hg19) ; chr20:g.63406892G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406892G>A , CM000682.2:g.63406892G>A	GRCh38
NC_000020.10:g.62038245G>A , CM000682.1:g.62038245G>A	GRCh37
NC_000020.9:g.61508689G>A	NCBI36
NG_009004.1:g.70749C>T
NG_009004.2:g.70749C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2425C>T	ENSP00000516702.1:p.Pro809Ser
ENST00000359125.7:c.2371C>T MANE Select	ENSP00000352035.2:p.Pro791Ser
ENST00000637193.1:c.1768C>T	ENSP00000490734.1:p.Pro590Ser
ENST00000344462.8:c.2278C>T	ENSP00000339611.4:p.Pro760Ser
ENST00000357249.6:c.1939C>T	ENSP00000349789.3:p.Pro647Ser
ENST00000359125.6:c.2371C>T	ENSP00000352035.2:p.Pro791Ser
ENST00000360480.7:c.2287C>T	ENSP00000353668.3:p.Pro763Ser
ENST00000370224.5:c.2241+154C>T	ENSP00000359244.2:n.2241+154C>T
ENST00000625514.2:c.2205+154C>T	ENSP00000486040.1:n.2205+154C>T
ENST00000626839.2:c.2317C>T	ENSP00000486706.1:p.Pro773Ser
ENST00000629241.2:c.2133+154C>T	ENSP00000487142.1:n.2133+154C>T
ENST00000629676.2:c.1680-6049C>T	ENSP00000486194.1:n.1680-6049C>T
NM_004518.4:c.2287C>T	NP_004509.2:p.Pro763Ser
NM_172106.1:c.2317C>T	NP_742104.1:p.Pro773Ser
NM_172107.2:c.2371C>T	NP_742105.1:p.Pro791Ser
NM_172108.3:c.2278C>T	NP_742106.1:p.Pro760Ser
XM_006723787.1:c.2413C>T	XP_006723850.1:p.Pro805Ser
XM_011528807.1:c.2479C>T	XP_011527109.1:p.Pro827Ser
XM_011528808.1:c.2476C>T	XP_011527110.1:p.Pro826Ser
XM_011528809.1:c.2449C>T	XP_011527111.1:p.Pro817Ser
XM_011528810.1:c.2425C>T	XP_011527112.1:p.Pro809Ser
XM_011528811.1:c.2395C>T	XP_011527113.1:p.Pro799Ser
XM_011528812.1:c.2368C>T	XP_011527114.1:p.Pro790Ser
XM_011528813.1:c.2353C>T	XP_011527115.1:p.Pro785Ser
XM_011528814.1:c.1960C>T	XP_011527116.1:p.Pro654Ser
NM_004518.5:c.2287C>T	NP_004509.2:p.Pro763Ser
NM_172106.2:c.2317C>T	NP_742104.1:p.Pro773Ser
NM_172107.3:c.2371C>T	NP_742105.1:p.Pro791Ser
NM_172108.4:c.2278C>T	NP_742106.1:p.Pro760Ser
XM_011528810.2:c.2425C>T	XP_011527112.1:p.Pro809Ser
XM_011528811.2:c.2395C>T	XP_011527113.1:p.Pro799Ser
XM_017027841.2:c.2422C>T	XP_016883330.1:p.Pro808Ser
XM_017027842.2:c.2359C>T	XP_016883331.1:p.Pro787Ser
XM_017027843.1:c.2356C>T	XP_016883332.1:p.Pro786Ser
XM_017027844.2:c.2314C>T	XP_016883333.1:p.Pro772Ser
XM_017027845.1:c.1387C>T	XP_016883334.1:p.Pro463Ser
NM_004518.6:c.2287C>T	NP_004509.2:p.Pro763Ser
NM_172106.3:c.2317C>T	NP_742104.1:p.Pro773Ser
NM_172107.4:c.2371C>T MANE Select	NP_742105.1:p.Pro791Ser
NM_172108.5:c.2278C>T	NP_742106.1:p.Pro760Ser
NM_001382235.1:c.2425C>T	NP_001369164.1:p.Pro809Ser