Canonical Allele Identifier: CA9958129

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1482390
• ClinVar RCV Id: RCV001995602
• dbSNP Id: rs749597397
• ExAC: 20:62038422 G / A
• gnomAD v2: 20-62038422-G-A
• gnomAD v3: 20-63407069-G-A
• gnomAD v4: 20-63407069-G-A
• MyVariant Identifiers: chr20:g.62038422G>A (hg19) ; chr20:g.63407069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407069G>A , CM000682.2:g.63407069G>A	GRCh38
NC_000020.10:g.62038422G>A , CM000682.1:g.62038422G>A	GRCh37
NC_000020.9:g.61508866G>A	NCBI36
NG_009004.1:g.70572C>T
NG_009004.2:g.70572C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2248C>T	ENSP00000516702.1:p.Pro750Ser
ENST00000359125.7:c.2194C>T MANE Select	ENSP00000352035.2:p.Pro732Ser
ENST00000637193.1:c.1591C>T	ENSP00000490734.1:p.Pro531Ser
ENST00000344462.8:c.2101C>T	ENSP00000339611.4:p.Pro701Ser
ENST00000357249.6:c.1762C>T	ENSP00000349789.3:p.Pro588Ser
ENST00000359125.6:c.2194C>T	ENSP00000352035.2:p.Pro732Ser
ENST00000360480.7:c.2110C>T	ENSP00000353668.3:p.Pro704Ser
ENST00000370224.5:c.2218C>T	ENSP00000359244.2:p.Pro740Ser
ENST00000625514.2:c.2182C>T	ENSP00000486040.1:p.Pro728Ser
ENST00000626839.2:c.2140C>T	ENSP00000486706.1:p.Pro714Ser
ENST00000629241.2:c.2110C>T	ENSP00000487142.1:p.Pro704Ser
ENST00000629676.2:c.1680-6226C>T	ENSP00000486194.1:n.1680-6226C>T
NM_004518.4:c.2110C>T	NP_004509.2:p.Pro704Ser
NM_172106.1:c.2140C>T	NP_742104.1:p.Pro714Ser
NM_172107.2:c.2194C>T	NP_742105.1:p.Pro732Ser
NM_172108.3:c.2101C>T	NP_742106.1:p.Pro701Ser
XM_006723787.1:c.2236C>T	XP_006723850.1:p.Pro746Ser
XM_011528807.1:c.2302C>T	XP_011527109.1:p.Pro768Ser
XM_011528808.1:c.2299C>T	XP_011527110.1:p.Pro767Ser
XM_011528809.1:c.2272C>T	XP_011527111.1:p.Pro758Ser
XM_011528810.1:c.2248C>T	XP_011527112.1:p.Pro750Ser
XM_011528811.1:c.2218C>T	XP_011527113.1:p.Pro740Ser
XM_011528812.1:c.2191C>T	XP_011527114.1:p.Pro731Ser
XM_011528813.1:c.2176C>T	XP_011527115.1:p.Pro726Ser
XM_011528814.1:c.1783C>T	XP_011527116.1:p.Pro595Ser
NM_004518.5:c.2110C>T	NP_004509.2:p.Pro704Ser
NM_172106.2:c.2140C>T	NP_742104.1:p.Pro714Ser
NM_172107.3:c.2194C>T	NP_742105.1:p.Pro732Ser
NM_172108.4:c.2101C>T	NP_742106.1:p.Pro701Ser
XM_011528810.2:c.2248C>T	XP_011527112.1:p.Pro750Ser
XM_011528811.2:c.2218C>T	XP_011527113.1:p.Pro740Ser
XM_017027841.2:c.2245C>T	XP_016883330.1:p.Pro749Ser
XM_017027842.2:c.2182C>T	XP_016883331.1:p.Pro728Ser
XM_017027843.1:c.2179C>T	XP_016883332.1:p.Pro727Ser
XM_017027844.2:c.2137C>T	XP_016883333.1:p.Pro713Ser
XM_017027845.1:c.1210C>T	XP_016883334.1:p.Pro404Ser
NM_004518.6:c.2110C>T	NP_004509.2:p.Pro704Ser
NM_172106.3:c.2140C>T	NP_742104.1:p.Pro714Ser
NM_172107.4:c.2194C>T MANE Select	NP_742105.1:p.Pro732Ser
NM_172108.5:c.2101C>T	NP_742106.1:p.Pro701Ser
NM_001382235.1:c.2248C>T	NP_001369164.1:p.Pro750Ser