Canonical Allele Identifier: CA409637544

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406906-G-T
• MyVariant Identifiers: chr20:g.62038259G>T (hg19) ; chr20:g.63406906G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406906G>T , CM000682.2:g.63406906G>T	GRCh38
NC_000020.10:g.62038259G>T , CM000682.1:g.62038259G>T	GRCh37
NC_000020.9:g.61508703G>T	NCBI36
NG_009004.1:g.70735C>A
NG_009004.2:g.70735C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2411C>A	ENSP00000516702.1:p.Thr804Lys
ENST00000359125.7:c.2357C>A MANE Select	ENSP00000352035.2:p.Thr786Lys
ENST00000637193.1:c.1754C>A	ENSP00000490734.1:p.Thr585Lys
ENST00000344462.8:c.2264C>A	ENSP00000339611.4:p.Thr755Lys
ENST00000357249.6:c.1925C>A	ENSP00000349789.3:p.Thr642Lys
ENST00000359125.6:c.2357C>A	ENSP00000352035.2:p.Thr786Lys
ENST00000360480.7:c.2273C>A	ENSP00000353668.3:p.Thr758Lys
ENST00000370224.5:c.2241+140C>A	ENSP00000359244.2:n.2241+140C>A
ENST00000625514.2:c.2205+140C>A	ENSP00000486040.1:n.2205+140C>A
ENST00000626839.2:c.2303C>A	ENSP00000486706.1:p.Thr768Lys
ENST00000629241.2:c.2133+140C>A	ENSP00000487142.1:n.2133+140C>A
ENST00000629676.2:c.1680-6063C>A	ENSP00000486194.1:n.1680-6063C>A
NM_004518.4:c.2273C>A	NP_004509.2:p.Thr758Lys
NM_172106.1:c.2303C>A	NP_742104.1:p.Thr768Lys
NM_172107.2:c.2357C>A	NP_742105.1:p.Thr786Lys
NM_172108.3:c.2264C>A	NP_742106.1:p.Thr755Lys
XM_006723787.1:c.2399C>A	XP_006723850.1:p.Thr800Lys
XM_011528807.1:c.2465C>A	XP_011527109.1:p.Thr822Lys
XM_011528808.1:c.2462C>A	XP_011527110.1:p.Thr821Lys
XM_011528809.1:c.2435C>A	XP_011527111.1:p.Thr812Lys
XM_011528810.1:c.2411C>A	XP_011527112.1:p.Thr804Lys
XM_011528811.1:c.2381C>A	XP_011527113.1:p.Thr794Lys
XM_011528812.1:c.2354C>A	XP_011527114.1:p.Thr785Lys
XM_011528813.1:c.2339C>A	XP_011527115.1:p.Thr780Lys
XM_011528814.1:c.1946C>A	XP_011527116.1:p.Thr649Lys
NM_004518.5:c.2273C>A	NP_004509.2:p.Thr758Lys
NM_172106.2:c.2303C>A	NP_742104.1:p.Thr768Lys
NM_172107.3:c.2357C>A	NP_742105.1:p.Thr786Lys
NM_172108.4:c.2264C>A	NP_742106.1:p.Thr755Lys
XM_011528810.2:c.2411C>A	XP_011527112.1:p.Thr804Lys
XM_011528811.2:c.2381C>A	XP_011527113.1:p.Thr794Lys
XM_017027841.2:c.2408C>A	XP_016883330.1:p.Thr803Lys
XM_017027842.2:c.2345C>A	XP_016883331.1:p.Thr782Lys
XM_017027843.1:c.2342C>A	XP_016883332.1:p.Thr781Lys
XM_017027844.2:c.2300C>A	XP_016883333.1:p.Thr767Lys
XM_017027845.1:c.1373C>A	XP_016883334.1:p.Thr458Lys
NM_004518.6:c.2273C>A	NP_004509.2:p.Thr758Lys
NM_172106.3:c.2303C>A	NP_742104.1:p.Thr768Lys
NM_172107.4:c.2357C>A MANE Select	NP_742105.1:p.Thr786Lys
NM_172108.5:c.2264C>A	NP_742106.1:p.Thr755Lys
NM_001382235.1:c.2411C>A	NP_001369164.1:p.Thr804Lys