Canonical Allele Identifier: CA409637010

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406809-G-C
• MyVariant Identifiers: chr20:g.62038162G>C (hg19) ; chr20:g.63406809G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406809G>C , CM000682.2:g.63406809G>C	GRCh38
NC_000020.10:g.62038162G>C , CM000682.1:g.62038162G>C	GRCh37
NC_000020.9:g.61508606G>C	NCBI36
NG_009004.1:g.70832C>G
NG_009004.2:g.70832C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2508C>G	ENSP00000516702.1:p.Asn836Lys
ENST00000359125.7:c.2454C>G MANE Select	ENSP00000352035.2:p.Asn818Lys
ENST00000637193.1:c.1851C>G	ENSP00000490734.1:p.Asn617Lys
ENST00000344462.8:c.2361C>G	ENSP00000339611.4:p.Asn787Lys
ENST00000357249.6:c.2022C>G	ENSP00000349789.3:p.Asn674Lys
ENST00000359125.6:c.2454C>G	ENSP00000352035.2:p.Asn818Lys
ENST00000360480.7:c.2370C>G	ENSP00000353668.3:p.Asn790Lys
ENST00000370224.5:c.2241+237C>G	ENSP00000359244.2:n.2241+237C>G
ENST00000625514.2:c.2205+237C>G	ENSP00000486040.1:n.2205+237C>G
ENST00000626839.2:c.2400C>G	ENSP00000486706.1:p.Asn800Lys
ENST00000629241.2:c.2133+237C>G	ENSP00000487142.1:n.2133+237C>G
ENST00000629676.2:c.1680-5966C>G	ENSP00000486194.1:n.1680-5966C>G
NM_004518.4:c.2370C>G	NP_004509.2:p.Asn790Lys
NM_172106.1:c.2400C>G	NP_742104.1:p.Asn800Lys
NM_172107.2:c.2454C>G	NP_742105.1:p.Asn818Lys
NM_172108.3:c.2361C>G	NP_742106.1:p.Asn787Lys
XM_006723787.1:c.2496C>G	XP_006723850.1:p.Asn832Lys
XM_011528807.1:c.2562C>G	XP_011527109.1:p.Asn854Lys
XM_011528808.1:c.2559C>G	XP_011527110.1:p.Asn853Lys
XM_011528809.1:c.2532C>G	XP_011527111.1:p.Asn844Lys
XM_011528810.1:c.2508C>G	XP_011527112.1:p.Asn836Lys
XM_011528811.1:c.2478C>G	XP_011527113.1:p.Asn826Lys
XM_011528812.1:c.2451C>G	XP_011527114.1:p.Asn817Lys
XM_011528813.1:c.2436C>G	XP_011527115.1:p.Asn812Lys
XM_011528814.1:c.2043C>G	XP_011527116.1:p.Asn681Lys
NM_004518.5:c.2370C>G	NP_004509.2:p.Asn790Lys
NM_172106.2:c.2400C>G	NP_742104.1:p.Asn800Lys
NM_172107.3:c.2454C>G	NP_742105.1:p.Asn818Lys
NM_172108.4:c.2361C>G	NP_742106.1:p.Asn787Lys
XM_011528810.2:c.2508C>G	XP_011527112.1:p.Asn836Lys
XM_011528811.2:c.2478C>G	XP_011527113.1:p.Asn826Lys
XM_017027841.2:c.2505C>G	XP_016883330.1:p.Asn835Lys
XM_017027842.2:c.2442C>G	XP_016883331.1:p.Asn814Lys
XM_017027843.1:c.2439C>G	XP_016883332.1:p.Asn813Lys
XM_017027844.2:c.2397C>G	XP_016883333.1:p.Asn799Lys
XM_017027845.1:c.1470C>G	XP_016883334.1:p.Asn490Lys
NM_004518.6:c.2370C>G	NP_004509.2:p.Asn790Lys
NM_172106.3:c.2400C>G	NP_742104.1:p.Asn800Lys
NM_172107.4:c.2454C>G MANE Select	NP_742105.1:p.Asn818Lys
NM_172108.5:c.2361C>G	NP_742106.1:p.Asn787Lys
NM_001382235.1:c.2508C>G	NP_001369164.1:p.Asn836Lys