Canonical Allele Identifier: CA511339369

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406986-G-A
• MyVariant Identifiers: chr20:g.62038339G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406986G>A , CM000682.2:g.63406986G>A	GRCh38
NC_000020.10:g.62038339G>A , CM000682.1:g.62038339G>A	GRCh37
NC_000020.9:g.61508783G>A	NCBI36
NG_009004.1:g.70655C>T
NG_009004.2:g.70655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2331C>T	ENSP00000516702.1:p.Asn777=
ENST00000359125.7:c.2277C>T MANE Select	ENSP00000352035.2:p.Asn759=
ENST00000637193.1:c.1674C>T	ENSP00000490734.1:p.Asn558=
ENST00000344462.8:c.2184C>T	ENSP00000339611.4:p.Asn728=
ENST00000357249.6:c.1845C>T	ENSP00000349789.3:p.Asn615=
ENST00000359125.6:c.2277C>T	ENSP00000352035.2:p.Asn759=
ENST00000360480.7:c.2193C>T	ENSP00000353668.3:p.Asn731=
ENST00000370224.5:c.2241+60C>T	ENSP00000359244.2:n.2241+60C>T
ENST00000625514.2:c.2205+60C>T	ENSP00000486040.1:n.2205+60C>T
ENST00000626839.2:c.2223C>T	ENSP00000486706.1:p.Asn741=
ENST00000629241.2:c.2133+60C>T	ENSP00000487142.1:n.2133+60C>T
ENST00000629676.2:c.1680-6143C>T	ENSP00000486194.1:n.1680-6143C>T
NM_004518.4:c.2193C>T	NP_004509.2:p.Asn731=
NM_172106.1:c.2223C>T	NP_742104.1:p.Asn741=
NM_172107.2:c.2277C>T	NP_742105.1:p.Asn759=
NM_172108.3:c.2184C>T	NP_742106.1:p.Asn728=
XM_006723787.1:c.2319C>T	XP_006723850.1:p.Asn773=
XM_011528807.1:c.2385C>T	XP_011527109.1:p.Asn795=
XM_011528808.1:c.2382C>T	XP_011527110.1:p.Asn794=
XM_011528809.1:c.2355C>T	XP_011527111.1:p.Asn785=
XM_011528810.1:c.2331C>T	XP_011527112.1:p.Asn777=
XM_011528811.1:c.2301C>T	XP_011527113.1:p.Asn767=
XM_011528812.1:c.2274C>T	XP_011527114.1:p.Asn758=
XM_011528813.1:c.2259C>T	XP_011527115.1:p.Asn753=
XM_011528814.1:c.1866C>T	XP_011527116.1:p.Asn622=
NM_004518.5:c.2193C>T	NP_004509.2:p.Asn731=
NM_172106.2:c.2223C>T	NP_742104.1:p.Asn741=
NM_172107.3:c.2277C>T	NP_742105.1:p.Asn759=
NM_172108.4:c.2184C>T	NP_742106.1:p.Asn728=
XM_011528810.2:c.2331C>T	XP_011527112.1:p.Asn777=
XM_011528811.2:c.2301C>T	XP_011527113.1:p.Asn767=
XM_017027841.2:c.2328C>T	XP_016883330.1:p.Asn776=
XM_017027842.2:c.2265C>T	XP_016883331.1:p.Asn755=
XM_017027843.1:c.2262C>T	XP_016883332.1:p.Asn754=
XM_017027844.2:c.2220C>T	XP_016883333.1:p.Asn740=
XM_017027845.1:c.1293C>T	XP_016883334.1:p.Asn431=
NM_004518.6:c.2193C>T	NP_004509.2:p.Asn731=
NM_172106.3:c.2223C>T	NP_742104.1:p.Asn741=
NM_172107.4:c.2277C>T MANE Select	NP_742105.1:p.Asn759=
NM_172108.5:c.2184C>T	NP_742106.1:p.Asn728=
NM_001382235.1:c.2331C>T	NP_001369164.1:p.Asn777=