Canonical Allele Identifier: CA409637745

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2971825
• ClinVar RCV Id: RCV003832887
• gnomAD v4: 20-63406937-G-A
• MyVariant Identifiers: chr20:g.62038290G>A (hg19) ; chr20:g.63406937G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406937G>A , CM000682.2:g.63406937G>A	GRCh38
NC_000020.10:g.62038290G>A , CM000682.1:g.62038290G>A	GRCh37
NC_000020.9:g.61508734G>A	NCBI36
NG_009004.1:g.70704C>T
NG_009004.2:g.70704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2380C>T	ENSP00000516702.1:p.Pro794Ser
ENST00000359125.7:c.2326C>T MANE Select	ENSP00000352035.2:p.Pro776Ser
ENST00000637193.1:c.1723C>T	ENSP00000490734.1:p.Pro575Ser
ENST00000344462.8:c.2233C>T	ENSP00000339611.4:p.Pro745Ser
ENST00000357249.6:c.1894C>T	ENSP00000349789.3:p.Pro632Ser
ENST00000359125.6:c.2326C>T	ENSP00000352035.2:p.Pro776Ser
ENST00000360480.7:c.2242C>T	ENSP00000353668.3:p.Pro748Ser
ENST00000370224.5:c.2241+109C>T	ENSP00000359244.2:n.2241+109C>T
ENST00000625514.2:c.2205+109C>T	ENSP00000486040.1:n.2205+109C>T
ENST00000626839.2:c.2272C>T	ENSP00000486706.1:p.Pro758Ser
ENST00000629241.2:c.2133+109C>T	ENSP00000487142.1:n.2133+109C>T
ENST00000629676.2:c.1680-6094C>T	ENSP00000486194.1:n.1680-6094C>T
NM_004518.4:c.2242C>T	NP_004509.2:p.Pro748Ser
NM_172106.1:c.2272C>T	NP_742104.1:p.Pro758Ser
NM_172107.2:c.2326C>T	NP_742105.1:p.Pro776Ser
NM_172108.3:c.2233C>T	NP_742106.1:p.Pro745Ser
XM_006723787.1:c.2368C>T	XP_006723850.1:p.Pro790Ser
XM_011528807.1:c.2434C>T	XP_011527109.1:p.Pro812Ser
XM_011528808.1:c.2431C>T	XP_011527110.1:p.Pro811Ser
XM_011528809.1:c.2404C>T	XP_011527111.1:p.Pro802Ser
XM_011528810.1:c.2380C>T	XP_011527112.1:p.Pro794Ser
XM_011528811.1:c.2350C>T	XP_011527113.1:p.Pro784Ser
XM_011528812.1:c.2323C>T	XP_011527114.1:p.Pro775Ser
XM_011528813.1:c.2308C>T	XP_011527115.1:p.Pro770Ser
XM_011528814.1:c.1915C>T	XP_011527116.1:p.Pro639Ser
NM_004518.5:c.2242C>T	NP_004509.2:p.Pro748Ser
NM_172106.2:c.2272C>T	NP_742104.1:p.Pro758Ser
NM_172107.3:c.2326C>T	NP_742105.1:p.Pro776Ser
NM_172108.4:c.2233C>T	NP_742106.1:p.Pro745Ser
XM_011528810.2:c.2380C>T	XP_011527112.1:p.Pro794Ser
XM_011528811.2:c.2350C>T	XP_011527113.1:p.Pro784Ser
XM_017027841.2:c.2377C>T	XP_016883330.1:p.Pro793Ser
XM_017027842.2:c.2314C>T	XP_016883331.1:p.Pro772Ser
XM_017027843.1:c.2311C>T	XP_016883332.1:p.Pro771Ser
XM_017027844.2:c.2269C>T	XP_016883333.1:p.Pro757Ser
XM_017027845.1:c.1342C>T	XP_016883334.1:p.Pro448Ser
NM_004518.6:c.2242C>T	NP_004509.2:p.Pro748Ser
NM_172106.3:c.2272C>T	NP_742104.1:p.Pro758Ser
NM_172107.4:c.2326C>T MANE Select	NP_742105.1:p.Pro776Ser
NM_172108.5:c.2233C>T	NP_742106.1:p.Pro745Ser
NM_001382235.1:c.2380C>T	NP_001369164.1:p.Pro794Ser