Canonical Allele Identifier: CA409637652

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406921-A-T
• MyVariant Identifiers: chr20:g.62038274A>T (hg19) ; chr20:g.63406921A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406921A>T , CM000682.2:g.63406921A>T	GRCh38
NC_000020.10:g.62038274A>T , CM000682.1:g.62038274A>T	GRCh37
NC_000020.9:g.61508718A>T	NCBI36
NG_009004.1:g.70720T>A
NG_009004.2:g.70720T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2396T>A	ENSP00000516702.1:p.Leu799Gln
ENST00000359125.7:c.2342T>A MANE Select	ENSP00000352035.2:p.Leu781Gln
ENST00000637193.1:c.1739T>A	ENSP00000490734.1:p.Leu580Gln
ENST00000344462.8:c.2249T>A	ENSP00000339611.4:p.Leu750Gln
ENST00000357249.6:c.1910T>A	ENSP00000349789.3:p.Leu637Gln
ENST00000359125.6:c.2342T>A	ENSP00000352035.2:p.Leu781Gln
ENST00000360480.7:c.2258T>A	ENSP00000353668.3:p.Leu753Gln
ENST00000370224.5:c.2241+125T>A	ENSP00000359244.2:n.2241+125T>A
ENST00000625514.2:c.2205+125T>A	ENSP00000486040.1:n.2205+125T>A
ENST00000626839.2:c.2288T>A	ENSP00000486706.1:p.Leu763Gln
ENST00000629241.2:c.2133+125T>A	ENSP00000487142.1:n.2133+125T>A
ENST00000629676.2:c.1680-6078T>A	ENSP00000486194.1:n.1680-6078T>A
NM_004518.4:c.2258T>A	NP_004509.2:p.Leu753Gln
NM_172106.1:c.2288T>A	NP_742104.1:p.Leu763Gln
NM_172107.2:c.2342T>A	NP_742105.1:p.Leu781Gln
NM_172108.3:c.2249T>A	NP_742106.1:p.Leu750Gln
XM_006723787.1:c.2384T>A	XP_006723850.1:p.Leu795Gln
XM_011528807.1:c.2450T>A	XP_011527109.1:p.Leu817Gln
XM_011528808.1:c.2447T>A	XP_011527110.1:p.Leu816Gln
XM_011528809.1:c.2420T>A	XP_011527111.1:p.Leu807Gln
XM_011528810.1:c.2396T>A	XP_011527112.1:p.Leu799Gln
XM_011528811.1:c.2366T>A	XP_011527113.1:p.Leu789Gln
XM_011528812.1:c.2339T>A	XP_011527114.1:p.Leu780Gln
XM_011528813.1:c.2324T>A	XP_011527115.1:p.Leu775Gln
XM_011528814.1:c.1931T>A	XP_011527116.1:p.Leu644Gln
NM_004518.5:c.2258T>A	NP_004509.2:p.Leu753Gln
NM_172106.2:c.2288T>A	NP_742104.1:p.Leu763Gln
NM_172107.3:c.2342T>A	NP_742105.1:p.Leu781Gln
NM_172108.4:c.2249T>A	NP_742106.1:p.Leu750Gln
XM_011528810.2:c.2396T>A	XP_011527112.1:p.Leu799Gln
XM_011528811.2:c.2366T>A	XP_011527113.1:p.Leu789Gln
XM_017027841.2:c.2393T>A	XP_016883330.1:p.Leu798Gln
XM_017027842.2:c.2330T>A	XP_016883331.1:p.Leu777Gln
XM_017027843.1:c.2327T>A	XP_016883332.1:p.Leu776Gln
XM_017027844.2:c.2285T>A	XP_016883333.1:p.Leu762Gln
XM_017027845.1:c.1358T>A	XP_016883334.1:p.Leu453Gln
NM_004518.6:c.2258T>A	NP_004509.2:p.Leu753Gln
NM_172106.3:c.2288T>A	NP_742104.1:p.Leu763Gln
NM_172107.4:c.2342T>A MANE Select	NP_742105.1:p.Leu781Gln
NM_172108.5:c.2249T>A	NP_742106.1:p.Leu750Gln
NM_001382235.1:c.2396T>A	NP_001369164.1:p.Leu799Gln