Canonical Allele Identifier: CA409637442

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1194376934
• gnomAD v2: 20-62038244-G-A
• gnomAD v4: 20-63406891-G-A
• MyVariant Identifiers: chr20:g.62038244G>A (hg19) ; chr20:g.63406891G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406891G>A , CM000682.2:g.63406891G>A	GRCh38
NC_000020.10:g.62038244G>A , CM000682.1:g.62038244G>A	GRCh37
NC_000020.9:g.61508688G>A	NCBI36
NG_009004.1:g.70750C>T
NG_009004.2:g.70750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2426C>T	ENSP00000516702.1:p.Pro809Leu
ENST00000359125.7:c.2372C>T MANE Select	ENSP00000352035.2:p.Pro791Leu
ENST00000637193.1:c.1769C>T	ENSP00000490734.1:p.Pro590Leu
ENST00000344462.8:c.2279C>T	ENSP00000339611.4:p.Pro760Leu
ENST00000357249.6:c.1940C>T	ENSP00000349789.3:p.Pro647Leu
ENST00000359125.6:c.2372C>T	ENSP00000352035.2:p.Pro791Leu
ENST00000360480.7:c.2288C>T	ENSP00000353668.3:p.Pro763Leu
ENST00000370224.5:c.2241+155C>T	ENSP00000359244.2:n.2241+155C>T
ENST00000625514.2:c.2205+155C>T	ENSP00000486040.1:n.2205+155C>T
ENST00000626839.2:c.2318C>T	ENSP00000486706.1:p.Pro773Leu
ENST00000629241.2:c.2133+155C>T	ENSP00000487142.1:n.2133+155C>T
ENST00000629676.2:c.1680-6048C>T	ENSP00000486194.1:n.1680-6048C>T
NM_004518.4:c.2288C>T	NP_004509.2:p.Pro763Leu
NM_172106.1:c.2318C>T	NP_742104.1:p.Pro773Leu
NM_172107.2:c.2372C>T	NP_742105.1:p.Pro791Leu
NM_172108.3:c.2279C>T	NP_742106.1:p.Pro760Leu
XM_006723787.1:c.2414C>T	XP_006723850.1:p.Pro805Leu
XM_011528807.1:c.2480C>T	XP_011527109.1:p.Pro827Leu
XM_011528808.1:c.2477C>T	XP_011527110.1:p.Pro826Leu
XM_011528809.1:c.2450C>T	XP_011527111.1:p.Pro817Leu
XM_011528810.1:c.2426C>T	XP_011527112.1:p.Pro809Leu
XM_011528811.1:c.2396C>T	XP_011527113.1:p.Pro799Leu
XM_011528812.1:c.2369C>T	XP_011527114.1:p.Pro790Leu
XM_011528813.1:c.2354C>T	XP_011527115.1:p.Pro785Leu
XM_011528814.1:c.1961C>T	XP_011527116.1:p.Pro654Leu
NM_004518.5:c.2288C>T	NP_004509.2:p.Pro763Leu
NM_172106.2:c.2318C>T	NP_742104.1:p.Pro773Leu
NM_172107.3:c.2372C>T	NP_742105.1:p.Pro791Leu
NM_172108.4:c.2279C>T	NP_742106.1:p.Pro760Leu
XM_011528810.2:c.2426C>T	XP_011527112.1:p.Pro809Leu
XM_011528811.2:c.2396C>T	XP_011527113.1:p.Pro799Leu
XM_017027841.2:c.2423C>T	XP_016883330.1:p.Pro808Leu
XM_017027842.2:c.2360C>T	XP_016883331.1:p.Pro787Leu
XM_017027843.1:c.2357C>T	XP_016883332.1:p.Pro786Leu
XM_017027844.2:c.2315C>T	XP_016883333.1:p.Pro772Leu
XM_017027845.1:c.1388C>T	XP_016883334.1:p.Pro463Leu
NM_004518.6:c.2288C>T	NP_004509.2:p.Pro763Leu
NM_172106.3:c.2318C>T	NP_742104.1:p.Pro773Leu
NM_172107.4:c.2372C>T MANE Select	NP_742105.1:p.Pro791Leu
NM_172108.5:c.2279C>T	NP_742106.1:p.Pro760Leu
NM_001382235.1:c.2426C>T	NP_001369164.1:p.Pro809Leu