Canonical Allele Identifier: CA409646790

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63415091-C-A
• MyVariant Identifiers: chr20:g.62046444C>A (hg19) ; chr20:g.63415091C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415091C>A , CM000682.2:g.63415091C>A	GRCh38
NC_000020.10:g.62046444C>A , CM000682.1:g.62046444C>A	GRCh37
NC_000020.9:g.61516888C>A	NCBI36
NG_009004.1:g.62550G>T
NG_009004.2:g.62550G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1283G>T	ENSP00000516702.1:p.Ser428Ile
ENST00000359125.7:c.1337G>T MANE Select	ENSP00000352035.2:p.Ser446Ile
ENST00000637193.1:c.734G>T	ENSP00000490734.1:p.Ser245Ile
ENST00000637584.1:n.75-1G>T
ENST00000344462.8:c.1248-1G>T	ENSP00000339611.4:n.1248-1G>T
ENST00000357249.6:c.906-1G>T	ENSP00000349789.3:n.906-1G>T
ENST00000359125.6:c.1337G>T	ENSP00000352035.2:p.Ser446Ile
ENST00000360480.7:c.1253G>T	ENSP00000353668.3:p.Ser418Ile
ENST00000370224.5:c.1253G>T	ENSP00000359244.2:p.Ser418Ile
ENST00000625514.2:c.1218-1G>T	ENSP00000486040.1:n.1218-1G>T
ENST00000626839.2:c.1283G>T	ENSP00000486706.1:p.Ser428Ile
ENST00000627221.2:c.397G>T
ENST00000629241.2:c.1253G>T	ENSP00000487142.1:p.Ser418Ile
ENST00000629676.2:c.1253G>T	ENSP00000486194.1:p.Ser418Ile
NM_004518.4:c.1253G>T	NP_004509.2:p.Ser418Ile
NM_172106.1:c.1283G>T	NP_742104.1:p.Ser428Ile
NM_172107.2:c.1337G>T	NP_742105.1:p.Ser446Ile
NM_172108.3:c.1248-1G>T	NP_742106.1:n.1248-1G>T
XM_006723787.1:c.1337G>T	XP_006723850.1:p.Ser446Ile
XM_011528807.1:c.1337G>T	XP_011527109.1:p.Ser446Ile
XM_011528808.1:c.1337G>T	XP_011527110.1:p.Ser446Ile
XM_011528809.1:c.1307G>T	XP_011527111.1:p.Ser436Ile
XM_011528810.1:c.1283G>T	XP_011527112.1:p.Ser428Ile
XM_011528811.1:c.1253G>T	XP_011527113.1:p.Ser418Ile
XM_011528812.1:c.1337G>T	XP_011527114.1:p.Ser446Ile
XM_011528813.1:c.1211G>T	XP_011527115.1:p.Ser404Ile
XM_011528814.1:c.818G>T	XP_011527116.1:p.Ser273Ile
XM_011528815.1:c.1337G>T	XP_011527117.1:p.Ser446Ile
NM_004518.5:c.1253G>T	NP_004509.2:p.Ser418Ile
NM_172106.2:c.1283G>T	NP_742104.1:p.Ser428Ile
NM_172107.3:c.1337G>T	NP_742105.1:p.Ser446Ile
NM_172108.4:c.1248-1G>T	NP_742106.1:n.1248-1G>T
XM_011528810.2:c.1283G>T	XP_011527112.1:p.Ser428Ile
XM_011528811.2:c.1253G>T	XP_011527113.1:p.Ser418Ile
XM_017027841.2:c.1283G>T	XP_016883330.1:p.Ser428Ile
XM_017027842.2:c.1283G>T	XP_016883331.1:p.Ser428Ile
XM_017027843.1:c.1214G>T	XP_016883332.1:p.Ser405Ile
XM_017027844.2:c.1283G>T	XP_016883333.1:p.Ser428Ile
XM_017027845.1:c.245G>T	XP_016883334.1:p.Ser82Ile
NM_004518.6:c.1253G>T	NP_004509.2:p.Ser418Ile
NM_172106.3:c.1283G>T	NP_742104.1:p.Ser428Ile
NM_172107.4:c.1337G>T MANE Select	NP_742105.1:p.Ser446Ile
NM_172108.5:c.1248-1G>T	NP_742106.1:n.1248-1G>T
NM_001382235.1:c.1283G>T	NP_001369164.1:p.Ser428Ile