Canonical Allele Identifier: CA409637914

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038313T>A (hg19) ; chr20:g.63406960T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406960T>A , CM000682.2:g.63406960T>A	GRCh38
NC_000020.10:g.62038313T>A , CM000682.1:g.62038313T>A	GRCh37
NC_000020.9:g.61508757T>A	NCBI36
NG_009004.1:g.70681A>T
NG_009004.2:g.70681A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2357A>T	ENSP00000516702.1:p.Gln786Leu
ENST00000359125.7:c.2303A>T MANE Select	ENSP00000352035.2:p.Gln768Leu
ENST00000637193.1:c.1700A>T	ENSP00000490734.1:p.Gln567Leu
ENST00000344462.8:c.2210A>T	ENSP00000339611.4:p.Gln737Leu
ENST00000357249.6:c.1871A>T	ENSP00000349789.3:p.Gln624Leu
ENST00000359125.6:c.2303A>T	ENSP00000352035.2:p.Gln768Leu
ENST00000360480.7:c.2219A>T	ENSP00000353668.3:p.Gln740Leu
ENST00000370224.5:c.2241+86A>T	ENSP00000359244.2:n.2241+86A>T
ENST00000625514.2:c.2205+86A>T	ENSP00000486040.1:n.2205+86A>T
ENST00000626839.2:c.2249A>T	ENSP00000486706.1:p.Gln750Leu
ENST00000629241.2:c.2133+86A>T	ENSP00000487142.1:n.2133+86A>T
ENST00000629676.2:c.1680-6117A>T	ENSP00000486194.1:n.1680-6117A>T
NM_004518.4:c.2219A>T	NP_004509.2:p.Gln740Leu
NM_172106.1:c.2249A>T	NP_742104.1:p.Gln750Leu
NM_172107.2:c.2303A>T	NP_742105.1:p.Gln768Leu
NM_172108.3:c.2210A>T	NP_742106.1:p.Gln737Leu
XM_006723787.1:c.2345A>T	XP_006723850.1:p.Gln782Leu
XM_011528807.1:c.2411A>T	XP_011527109.1:p.Gln804Leu
XM_011528808.1:c.2408A>T	XP_011527110.1:p.Gln803Leu
XM_011528809.1:c.2381A>T	XP_011527111.1:p.Gln794Leu
XM_011528810.1:c.2357A>T	XP_011527112.1:p.Gln786Leu
XM_011528811.1:c.2327A>T	XP_011527113.1:p.Gln776Leu
XM_011528812.1:c.2300A>T	XP_011527114.1:p.Gln767Leu
XM_011528813.1:c.2285A>T	XP_011527115.1:p.Gln762Leu
XM_011528814.1:c.1892A>T	XP_011527116.1:p.Gln631Leu
NM_004518.5:c.2219A>T	NP_004509.2:p.Gln740Leu
NM_172106.2:c.2249A>T	NP_742104.1:p.Gln750Leu
NM_172107.3:c.2303A>T	NP_742105.1:p.Gln768Leu
NM_172108.4:c.2210A>T	NP_742106.1:p.Gln737Leu
XM_011528810.2:c.2357A>T	XP_011527112.1:p.Gln786Leu
XM_011528811.2:c.2327A>T	XP_011527113.1:p.Gln776Leu
XM_017027841.2:c.2354A>T	XP_016883330.1:p.Gln785Leu
XM_017027842.2:c.2291A>T	XP_016883331.1:p.Gln764Leu
XM_017027843.1:c.2288A>T	XP_016883332.1:p.Gln763Leu
XM_017027844.2:c.2246A>T	XP_016883333.1:p.Gln749Leu
XM_017027845.1:c.1319A>T	XP_016883334.1:p.Gln440Leu
NM_004518.6:c.2219A>T	NP_004509.2:p.Gln740Leu
NM_172106.3:c.2249A>T	NP_742104.1:p.Gln750Leu
NM_172107.4:c.2303A>T MANE Select	NP_742105.1:p.Gln768Leu
NM_172108.5:c.2210A>T	NP_742106.1:p.Gln737Leu
NM_001382235.1:c.2357A>T	NP_001369164.1:p.Gln786Leu