Canonical Allele Identifier: CA409645236

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2430050
• ClinVar RCV Id: RCV003128015
• MyVariant Identifiers: chr20:g.62045469C>T (hg19) ; chr20:g.63414116C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414116C>T , CM000682.2:g.63414116C>T	GRCh38
NC_000020.10:g.62045469C>T , CM000682.1:g.62045469C>T	GRCh37
NC_000020.9:g.61515913C>T	NCBI36
NG_009004.1:g.63525G>A
NG_009004.2:g.63525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1549G>A	ENSP00000516702.1:p.Gly517Ser
ENST00000359125.7:c.1603G>A MANE Select	ENSP00000352035.2:p.Gly535Ser
ENST00000637193.1:c.1000G>A	ENSP00000490734.1:p.Gly334Ser
ENST00000344462.8:c.1510G>A	ENSP00000339611.4:p.Gly504Ser
ENST00000357249.6:c.1171G>A	ENSP00000349789.3:p.Gly391Ser
ENST00000359125.6:c.1603G>A	ENSP00000352035.2:p.Gly535Ser
ENST00000360480.7:c.1519G>A	ENSP00000353668.3:p.Gly507Ser
ENST00000370224.5:c.1519G>A	ENSP00000359244.2:p.Gly507Ser
ENST00000625514.2:c.1483G>A	ENSP00000486040.1:p.Gly495Ser
ENST00000626839.2:c.1549G>A	ENSP00000486706.1:p.Gly517Ser
ENST00000627221.2:c.660G>A
ENST00000629241.2:c.1519G>A	ENSP00000487142.1:p.Gly507Ser
ENST00000629318.1:c.211G>A	ENSP00000487384.1:p.Gly71Ser
ENST00000629676.2:c.1519G>A	ENSP00000486194.1:p.Gly507Ser
NM_004518.4:c.1519G>A	NP_004509.2:p.Gly507Ser
NM_172106.1:c.1549G>A	NP_742104.1:p.Gly517Ser
NM_172107.2:c.1603G>A	NP_742105.1:p.Gly535Ser
NM_172108.3:c.1510G>A	NP_742106.1:p.Gly504Ser
XM_006723787.1:c.1603G>A	XP_006723850.1:p.Gly535Ser
XM_011528807.1:c.1603G>A	XP_011527109.1:p.Gly535Ser
XM_011528808.1:c.1600G>A	XP_011527110.1:p.Gly534Ser
XM_011528809.1:c.1573G>A	XP_011527111.1:p.Gly525Ser
XM_011528810.1:c.1549G>A	XP_011527112.1:p.Gly517Ser
XM_011528811.1:c.1519G>A	XP_011527113.1:p.Gly507Ser
XM_011528812.1:c.1600G>A	XP_011527114.1:p.Gly534Ser
XM_011528813.1:c.1477G>A	XP_011527115.1:p.Gly493Ser
XM_011528814.1:c.1084G>A	XP_011527116.1:p.Gly362Ser
XM_011528815.1:c.1603G>A	XP_011527117.1:p.Gly535Ser
NM_004518.5:c.1519G>A	NP_004509.2:p.Gly507Ser
NM_172106.2:c.1549G>A	NP_742104.1:p.Gly517Ser
NM_172107.3:c.1603G>A	NP_742105.1:p.Gly535Ser
NM_172108.4:c.1510G>A	NP_742106.1:p.Gly504Ser
XM_011528810.2:c.1549G>A	XP_011527112.1:p.Gly517Ser
XM_011528811.2:c.1519G>A	XP_011527113.1:p.Gly507Ser
XM_017027841.2:c.1546G>A	XP_016883330.1:p.Gly516Ser
XM_017027842.2:c.1549G>A	XP_016883331.1:p.Gly517Ser
XM_017027843.1:c.1480G>A	XP_016883332.1:p.Gly494Ser
XM_017027844.2:c.1546G>A	XP_016883333.1:p.Gly516Ser
XM_017027845.1:c.511G>A	XP_016883334.1:p.Gly171Ser
NM_004518.6:c.1519G>A	NP_004509.2:p.Gly507Ser
NM_172106.3:c.1549G>A	NP_742104.1:p.Gly517Ser
NM_172107.4:c.1603G>A MANE Select	NP_742105.1:p.Gly535Ser
NM_172108.5:c.1510G>A	NP_742106.1:p.Gly504Ser
NM_001382235.1:c.1549G>A	NP_001369164.1:p.Gly517Ser