Canonical Allele Identifier: CA409636923

Gene: KCNQ2

Linked Data

• COSMIC: COSM312220
• MyVariant Identifiers: chr20:g.62038142G>T (hg19) ; chr20:g.63406789G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406789G>T , CM000682.2:g.63406789G>T	GRCh38
NC_000020.10:g.62038142G>T , CM000682.1:g.62038142G>T	GRCh37
NC_000020.9:g.61508586G>T	NCBI36
NG_009004.1:g.70852C>A
NG_009004.2:g.70852C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2528C>A	ENSP00000516702.1:p.Ala843Glu
ENST00000359125.7:c.2474C>A MANE Select	ENSP00000352035.2:p.Ala825Glu
ENST00000637193.1:c.1871C>A	ENSP00000490734.1:p.Ala624Glu
ENST00000344462.8:c.2381C>A	ENSP00000339611.4:p.Ala794Glu
ENST00000357249.6:c.2042C>A	ENSP00000349789.3:p.Ala681Glu
ENST00000359125.6:c.2474C>A	ENSP00000352035.2:p.Ala825Glu
ENST00000360480.7:c.2390C>A	ENSP00000353668.3:p.Ala797Glu
ENST00000370224.5:c.2241+257C>A	ENSP00000359244.2:n.2241+257C>A
ENST00000625514.2:c.2205+257C>A	ENSP00000486040.1:n.2205+257C>A
ENST00000626839.2:c.2420C>A	ENSP00000486706.1:p.Ala807Glu
ENST00000629241.2:c.2133+257C>A	ENSP00000487142.1:n.2133+257C>A
ENST00000629676.2:c.1680-5946C>A	ENSP00000486194.1:n.1680-5946C>A
NM_004518.4:c.2390C>A	NP_004509.2:p.Ala797Glu
NM_172106.1:c.2420C>A	NP_742104.1:p.Ala807Glu
NM_172107.2:c.2474C>A	NP_742105.1:p.Ala825Glu
NM_172108.3:c.2381C>A	NP_742106.1:p.Ala794Glu
XM_006723787.1:c.2516C>A	XP_006723850.1:p.Ala839Glu
XM_011528807.1:c.2582C>A	XP_011527109.1:p.Ala861Glu
XM_011528808.1:c.2579C>A	XP_011527110.1:p.Ala860Glu
XM_011528809.1:c.2552C>A	XP_011527111.1:p.Ala851Glu
XM_011528810.1:c.2528C>A	XP_011527112.1:p.Ala843Glu
XM_011528811.1:c.2498C>A	XP_011527113.1:p.Ala833Glu
XM_011528812.1:c.2471C>A	XP_011527114.1:p.Ala824Glu
XM_011528813.1:c.2456C>A	XP_011527115.1:p.Ala819Glu
XM_011528814.1:c.2063C>A	XP_011527116.1:p.Ala688Glu
NM_004518.5:c.2390C>A	NP_004509.2:p.Ala797Glu
NM_172106.2:c.2420C>A	NP_742104.1:p.Ala807Glu
NM_172107.3:c.2474C>A	NP_742105.1:p.Ala825Glu
NM_172108.4:c.2381C>A	NP_742106.1:p.Ala794Glu
XM_011528810.2:c.2528C>A	XP_011527112.1:p.Ala843Glu
XM_011528811.2:c.2498C>A	XP_011527113.1:p.Ala833Glu
XM_017027841.2:c.2525C>A	XP_016883330.1:p.Ala842Glu
XM_017027842.2:c.2462C>A	XP_016883331.1:p.Ala821Glu
XM_017027843.1:c.2459C>A	XP_016883332.1:p.Ala820Glu
XM_017027844.2:c.2417C>A	XP_016883333.1:p.Ala806Glu
XM_017027845.1:c.1490C>A	XP_016883334.1:p.Ala497Glu
NM_004518.6:c.2390C>A	NP_004509.2:p.Ala797Glu
NM_172106.3:c.2420C>A	NP_742104.1:p.Ala807Glu
NM_172107.4:c.2474C>A MANE Select	NP_742105.1:p.Ala825Glu
NM_172108.5:c.2381C>A	NP_742106.1:p.Ala794Glu
NM_001382235.1:c.2528C>A	NP_001369164.1:p.Ala843Glu