Canonical Allele Identifier: CA511339636

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407337-A-G
• MyVariant Identifiers: chr20:g.62038690A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407337A>G , CM000682.2:g.63407337A>G	GRCh38
NC_000020.10:g.62038690A>G , CM000682.1:g.62038690A>G	GRCh37
NC_000020.9:g.61509134A>G	NCBI36
NG_009004.1:g.70304T>C
NG_009004.2:g.70304T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1980T>C	ENSP00000516702.1:p.Asn660=
ENST00000359125.7:c.1926T>C MANE Select	ENSP00000352035.2:p.Asn642=
ENST00000637193.1:c.1323T>C	ENSP00000490734.1:p.Asn441=
ENST00000637338.1:n.83T>C
ENST00000344462.8:c.1833T>C	ENSP00000339611.4:p.Asn611=
ENST00000357249.6:c.1494T>C	ENSP00000349789.3:p.Asn498=
ENST00000359125.6:c.1926T>C	ENSP00000352035.2:p.Asn642=
ENST00000360480.7:c.1842T>C	ENSP00000353668.3:p.Asn614=
ENST00000370224.5:c.1950T>C	ENSP00000359244.2:p.Asn650=
ENST00000625514.2:c.1914T>C	ENSP00000486040.1:p.Asn638=
ENST00000626839.2:c.1872T>C	ENSP00000486706.1:p.Asn624=
ENST00000629241.2:c.1842T>C	ENSP00000487142.1:p.Asn614=
ENST00000629676.2:c.1679+6113T>C	ENSP00000486194.1:n.1679+6113T>C
NM_004518.4:c.1842T>C	NP_004509.2:p.Asn614=
NM_172106.1:c.1872T>C	NP_742104.1:p.Asn624=
NM_172107.2:c.1926T>C	NP_742105.1:p.Asn642=
NM_172108.3:c.1833T>C	NP_742106.1:p.Asn611=
XM_006723787.1:c.1968T>C	XP_006723850.1:p.Asn656=
XM_011528807.1:c.2034T>C	XP_011527109.1:p.Asn678=
XM_011528808.1:c.2031T>C	XP_011527110.1:p.Asn677=
XM_011528809.1:c.2004T>C	XP_011527111.1:p.Asn668=
XM_011528810.1:c.1980T>C	XP_011527112.1:p.Asn660=
XM_011528811.1:c.1950T>C	XP_011527113.1:p.Asn650=
XM_011528812.1:c.1923T>C	XP_011527114.1:p.Asn641=
XM_011528813.1:c.1908T>C	XP_011527115.1:p.Asn636=
XM_011528814.1:c.1515T>C	XP_011527116.1:p.Asn505=
NM_004518.5:c.1842T>C	NP_004509.2:p.Asn614=
NM_172106.2:c.1872T>C	NP_742104.1:p.Asn624=
NM_172107.3:c.1926T>C	NP_742105.1:p.Asn642=
NM_172108.4:c.1833T>C	NP_742106.1:p.Asn611=
XM_011528810.2:c.1980T>C	XP_011527112.1:p.Asn660=
XM_011528811.2:c.1950T>C	XP_011527113.1:p.Asn650=
XM_017027841.2:c.1977T>C	XP_016883330.1:p.Asn659=
XM_017027842.2:c.1914T>C	XP_016883331.1:p.Asn638=
XM_017027843.1:c.1911T>C	XP_016883332.1:p.Asn637=
XM_017027844.2:c.1869T>C	XP_016883333.1:p.Asn623=
XM_017027845.1:c.942T>C	XP_016883334.1:p.Asn314=
NM_004518.6:c.1842T>C	NP_004509.2:p.Asn614=
NM_172106.3:c.1872T>C	NP_742104.1:p.Asn624=
NM_172107.4:c.1926T>C MANE Select	NP_742105.1:p.Asn642=
NM_172108.5:c.1833T>C	NP_742106.1:p.Asn611=
NM_001382235.1:c.1980T>C	NP_001369164.1:p.Asn660=