Canonical Allele Identifier: CA409637353

Gene: KCNQ2

Linked Data

• dbSNP Id: rs2079954091
• gnomAD v3: 20-63406877-C-T
• gnomAD v4: 20-63406877-C-T
• MyVariant Identifiers: chr20:g.62038230C>T (hg19) ; chr20:g.63406877C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406877C>T , CM000682.2:g.63406877C>T	GRCh38
NC_000020.10:g.62038230C>T , CM000682.1:g.62038230C>T	GRCh37
NC_000020.9:g.61508674C>T	NCBI36
NG_009004.1:g.70764G>A
NG_009004.2:g.70764G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2440G>A	ENSP00000516702.1:p.Glu814Lys
ENST00000359125.7:c.2386G>A MANE Select	ENSP00000352035.2:p.Glu796Lys
ENST00000637193.1:c.1783G>A	ENSP00000490734.1:p.Glu595Lys
ENST00000344462.8:c.2293G>A	ENSP00000339611.4:p.Glu765Lys
ENST00000357249.6:c.1954G>A	ENSP00000349789.3:p.Glu652Lys
ENST00000359125.6:c.2386G>A	ENSP00000352035.2:p.Glu796Lys
ENST00000360480.7:c.2302G>A	ENSP00000353668.3:p.Glu768Lys
ENST00000370224.5:c.2241+169G>A	ENSP00000359244.2:n.2241+169G>A
ENST00000625514.2:c.2205+169G>A	ENSP00000486040.1:n.2205+169G>A
ENST00000626839.2:c.2332G>A	ENSP00000486706.1:p.Glu778Lys
ENST00000629241.2:c.2133+169G>A	ENSP00000487142.1:n.2133+169G>A
ENST00000629676.2:c.1680-6034G>A	ENSP00000486194.1:n.1680-6034G>A
NM_004518.4:c.2302G>A	NP_004509.2:p.Glu768Lys
NM_172106.1:c.2332G>A	NP_742104.1:p.Glu778Lys
NM_172107.2:c.2386G>A	NP_742105.1:p.Glu796Lys
NM_172108.3:c.2293G>A	NP_742106.1:p.Glu765Lys
XM_006723787.1:c.2428G>A	XP_006723850.1:p.Glu810Lys
XM_011528807.1:c.2494G>A	XP_011527109.1:p.Glu832Lys
XM_011528808.1:c.2491G>A	XP_011527110.1:p.Glu831Lys
XM_011528809.1:c.2464G>A	XP_011527111.1:p.Glu822Lys
XM_011528810.1:c.2440G>A	XP_011527112.1:p.Glu814Lys
XM_011528811.1:c.2410G>A	XP_011527113.1:p.Glu804Lys
XM_011528812.1:c.2383G>A	XP_011527114.1:p.Glu795Lys
XM_011528813.1:c.2368G>A	XP_011527115.1:p.Glu790Lys
XM_011528814.1:c.1975G>A	XP_011527116.1:p.Glu659Lys
NM_004518.5:c.2302G>A	NP_004509.2:p.Glu768Lys
NM_172106.2:c.2332G>A	NP_742104.1:p.Glu778Lys
NM_172107.3:c.2386G>A	NP_742105.1:p.Glu796Lys
NM_172108.4:c.2293G>A	NP_742106.1:p.Glu765Lys
XM_011528810.2:c.2440G>A	XP_011527112.1:p.Glu814Lys
XM_011528811.2:c.2410G>A	XP_011527113.1:p.Glu804Lys
XM_017027841.2:c.2437G>A	XP_016883330.1:p.Glu813Lys
XM_017027842.2:c.2374G>A	XP_016883331.1:p.Glu792Lys
XM_017027843.1:c.2371G>A	XP_016883332.1:p.Glu791Lys
XM_017027844.2:c.2329G>A	XP_016883333.1:p.Glu777Lys
XM_017027845.1:c.1402G>A	XP_016883334.1:p.Glu468Lys
NM_004518.6:c.2302G>A	NP_004509.2:p.Glu768Lys
NM_172106.3:c.2332G>A	NP_742104.1:p.Glu778Lys
NM_172107.4:c.2386G>A MANE Select	NP_742105.1:p.Glu796Lys
NM_172108.5:c.2293G>A	NP_742106.1:p.Glu765Lys
NM_001382235.1:c.2440G>A	NP_001369164.1:p.Glu814Lys