Canonical Allele Identifier: CA409637174

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406846-C-A
• MyVariant Identifiers: chr20:g.62038199C>A (hg19) ; chr20:g.63406846C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406846C>A , CM000682.2:g.63406846C>A	GRCh38
NC_000020.10:g.62038199C>A , CM000682.1:g.62038199C>A	GRCh37
NC_000020.9:g.61508643C>A	NCBI36
NG_009004.1:g.70795G>T
NG_009004.2:g.70795G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2471G>T	ENSP00000516702.1:p.Ser824Ile
ENST00000359125.7:c.2417G>T MANE Select	ENSP00000352035.2:p.Ser806Ile
ENST00000637193.1:c.1814G>T	ENSP00000490734.1:p.Ser605Ile
ENST00000344462.8:c.2324G>T	ENSP00000339611.4:p.Ser775Ile
ENST00000357249.6:c.1985G>T	ENSP00000349789.3:p.Ser662Ile
ENST00000359125.6:c.2417G>T	ENSP00000352035.2:p.Ser806Ile
ENST00000360480.7:c.2333G>T	ENSP00000353668.3:p.Ser778Ile
ENST00000370224.5:c.2241+200G>T	ENSP00000359244.2:n.2241+200G>T
ENST00000625514.2:c.2205+200G>T	ENSP00000486040.1:n.2205+200G>T
ENST00000626839.2:c.2363G>T	ENSP00000486706.1:p.Ser788Ile
ENST00000629241.2:c.2133+200G>T	ENSP00000487142.1:n.2133+200G>T
ENST00000629676.2:c.1680-6003G>T	ENSP00000486194.1:n.1680-6003G>T
NM_004518.4:c.2333G>T	NP_004509.2:p.Ser778Ile
NM_172106.1:c.2363G>T	NP_742104.1:p.Ser788Ile
NM_172107.2:c.2417G>T	NP_742105.1:p.Ser806Ile
NM_172108.3:c.2324G>T	NP_742106.1:p.Ser775Ile
XM_006723787.1:c.2459G>T	XP_006723850.1:p.Ser820Ile
XM_011528807.1:c.2525G>T	XP_011527109.1:p.Ser842Ile
XM_011528808.1:c.2522G>T	XP_011527110.1:p.Ser841Ile
XM_011528809.1:c.2495G>T	XP_011527111.1:p.Ser832Ile
XM_011528810.1:c.2471G>T	XP_011527112.1:p.Ser824Ile
XM_011528811.1:c.2441G>T	XP_011527113.1:p.Ser814Ile
XM_011528812.1:c.2414G>T	XP_011527114.1:p.Ser805Ile
XM_011528813.1:c.2399G>T	XP_011527115.1:p.Ser800Ile
XM_011528814.1:c.2006G>T	XP_011527116.1:p.Ser669Ile
NM_004518.5:c.2333G>T	NP_004509.2:p.Ser778Ile
NM_172106.2:c.2363G>T	NP_742104.1:p.Ser788Ile
NM_172107.3:c.2417G>T	NP_742105.1:p.Ser806Ile
NM_172108.4:c.2324G>T	NP_742106.1:p.Ser775Ile
XM_011528810.2:c.2471G>T	XP_011527112.1:p.Ser824Ile
XM_011528811.2:c.2441G>T	XP_011527113.1:p.Ser814Ile
XM_017027841.2:c.2468G>T	XP_016883330.1:p.Ser823Ile
XM_017027842.2:c.2405G>T	XP_016883331.1:p.Ser802Ile
XM_017027843.1:c.2402G>T	XP_016883332.1:p.Ser801Ile
XM_017027844.2:c.2360G>T	XP_016883333.1:p.Ser787Ile
XM_017027845.1:c.1433G>T	XP_016883334.1:p.Ser478Ile
NM_004518.6:c.2333G>T	NP_004509.2:p.Ser778Ile
NM_172106.3:c.2363G>T	NP_742104.1:p.Ser788Ile
NM_172107.4:c.2417G>T MANE Select	NP_742105.1:p.Ser806Ile
NM_172108.5:c.2324G>T	NP_742106.1:p.Ser775Ile
NM_001382235.1:c.2471G>T	NP_001369164.1:p.Ser824Ile