Canonical Allele Identifier: CA409638917

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407135-C-A
• MyVariant Identifiers: chr20:g.62038488C>A (hg19) ; chr20:g.63407135C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407135C>A , CM000682.2:g.63407135C>A	GRCh38
NC_000020.10:g.62038488C>A , CM000682.1:g.62038488C>A	GRCh37
NC_000020.9:g.61508932C>A	NCBI36
NG_009004.1:g.70506G>T
NG_009004.2:g.70506G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2182G>T	ENSP00000516702.1:p.Val728Phe
ENST00000359125.7:c.2128G>T MANE Select	ENSP00000352035.2:p.Val710Phe
ENST00000637193.1:c.1525G>T	ENSP00000490734.1:p.Val509Phe
ENST00000344462.8:c.2035G>T	ENSP00000339611.4:p.Val679Phe
ENST00000357249.6:c.1696G>T	ENSP00000349789.3:p.Val566Phe
ENST00000359125.6:c.2128G>T	ENSP00000352035.2:p.Val710Phe
ENST00000360480.7:c.2044G>T	ENSP00000353668.3:p.Val682Phe
ENST00000370224.5:c.2152G>T	ENSP00000359244.2:p.Val718Phe
ENST00000625514.2:c.2116G>T	ENSP00000486040.1:p.Val706Phe
ENST00000626839.2:c.2074G>T	ENSP00000486706.1:p.Val692Phe
ENST00000629241.2:c.2044G>T	ENSP00000487142.1:p.Val682Phe
ENST00000629676.2:c.1680-6292G>T	ENSP00000486194.1:n.1680-6292G>T
NM_004518.4:c.2044G>T	NP_004509.2:p.Val682Phe
NM_172106.1:c.2074G>T	NP_742104.1:p.Val692Phe
NM_172107.2:c.2128G>T	NP_742105.1:p.Val710Phe
NM_172108.3:c.2035G>T	NP_742106.1:p.Val679Phe
XM_006723787.1:c.2170G>T	XP_006723850.1:p.Val724Phe
XM_011528807.1:c.2236G>T	XP_011527109.1:p.Val746Phe
XM_011528808.1:c.2233G>T	XP_011527110.1:p.Val745Phe
XM_011528809.1:c.2206G>T	XP_011527111.1:p.Val736Phe
XM_011528810.1:c.2182G>T	XP_011527112.1:p.Val728Phe
XM_011528811.1:c.2152G>T	XP_011527113.1:p.Val718Phe
XM_011528812.1:c.2125G>T	XP_011527114.1:p.Val709Phe
XM_011528813.1:c.2110G>T	XP_011527115.1:p.Val704Phe
XM_011528814.1:c.1717G>T	XP_011527116.1:p.Val573Phe
NM_004518.5:c.2044G>T	NP_004509.2:p.Val682Phe
NM_172106.2:c.2074G>T	NP_742104.1:p.Val692Phe
NM_172107.3:c.2128G>T	NP_742105.1:p.Val710Phe
NM_172108.4:c.2035G>T	NP_742106.1:p.Val679Phe
XM_011528810.2:c.2182G>T	XP_011527112.1:p.Val728Phe
XM_011528811.2:c.2152G>T	XP_011527113.1:p.Val718Phe
XM_017027841.2:c.2179G>T	XP_016883330.1:p.Val727Phe
XM_017027842.2:c.2116G>T	XP_016883331.1:p.Val706Phe
XM_017027843.1:c.2113G>T	XP_016883332.1:p.Val705Phe
XM_017027844.2:c.2071G>T	XP_016883333.1:p.Val691Phe
XM_017027845.1:c.1144G>T	XP_016883334.1:p.Val382Phe
NM_004518.6:c.2044G>T	NP_004509.2:p.Val682Phe
NM_172106.3:c.2074G>T	NP_742104.1:p.Val692Phe
NM_172107.4:c.2128G>T MANE Select	NP_742105.1:p.Val710Phe
NM_172108.5:c.2035G>T	NP_742106.1:p.Val679Phe
NM_001382235.1:c.2182G>T	NP_001369164.1:p.Val728Phe