Canonical Allele Identifier: CA409637022

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406811-T-G
• MyVariant Identifiers: chr20:g.62038164T>G (hg19) ; chr20:g.63406811T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406811T>G , CM000682.2:g.63406811T>G	GRCh38
NC_000020.10:g.62038164T>G , CM000682.1:g.62038164T>G	GRCh37
NC_000020.9:g.61508608T>G	NCBI36
NG_009004.1:g.70830A>C
NG_009004.2:g.70830A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2506A>C	ENSP00000516702.1:p.Asn836His
ENST00000359125.7:c.2452A>C MANE Select	ENSP00000352035.2:p.Asn818His
ENST00000637193.1:c.1849A>C	ENSP00000490734.1:p.Asn617His
ENST00000344462.8:c.2359A>C	ENSP00000339611.4:p.Asn787His
ENST00000357249.6:c.2020A>C	ENSP00000349789.3:p.Asn674His
ENST00000359125.6:c.2452A>C	ENSP00000352035.2:p.Asn818His
ENST00000360480.7:c.2368A>C	ENSP00000353668.3:p.Asn790His
ENST00000370224.5:c.2241+235A>C	ENSP00000359244.2:n.2241+235A>C
ENST00000625514.2:c.2205+235A>C	ENSP00000486040.1:n.2205+235A>C
ENST00000626839.2:c.2398A>C	ENSP00000486706.1:p.Asn800His
ENST00000629241.2:c.2133+235A>C	ENSP00000487142.1:n.2133+235A>C
ENST00000629676.2:c.1680-5968A>C	ENSP00000486194.1:n.1680-5968A>C
NM_004518.4:c.2368A>C	NP_004509.2:p.Asn790His
NM_172106.1:c.2398A>C	NP_742104.1:p.Asn800His
NM_172107.2:c.2452A>C	NP_742105.1:p.Asn818His
NM_172108.3:c.2359A>C	NP_742106.1:p.Asn787His
XM_006723787.1:c.2494A>C	XP_006723850.1:p.Asn832His
XM_011528807.1:c.2560A>C	XP_011527109.1:p.Asn854His
XM_011528808.1:c.2557A>C	XP_011527110.1:p.Asn853His
XM_011528809.1:c.2530A>C	XP_011527111.1:p.Asn844His
XM_011528810.1:c.2506A>C	XP_011527112.1:p.Asn836His
XM_011528811.1:c.2476A>C	XP_011527113.1:p.Asn826His
XM_011528812.1:c.2449A>C	XP_011527114.1:p.Asn817His
XM_011528813.1:c.2434A>C	XP_011527115.1:p.Asn812His
XM_011528814.1:c.2041A>C	XP_011527116.1:p.Asn681His
NM_004518.5:c.2368A>C	NP_004509.2:p.Asn790His
NM_172106.2:c.2398A>C	NP_742104.1:p.Asn800His
NM_172107.3:c.2452A>C	NP_742105.1:p.Asn818His
NM_172108.4:c.2359A>C	NP_742106.1:p.Asn787His
XM_011528810.2:c.2506A>C	XP_011527112.1:p.Asn836His
XM_011528811.2:c.2476A>C	XP_011527113.1:p.Asn826His
XM_017027841.2:c.2503A>C	XP_016883330.1:p.Asn835His
XM_017027842.2:c.2440A>C	XP_016883331.1:p.Asn814His
XM_017027843.1:c.2437A>C	XP_016883332.1:p.Asn813His
XM_017027844.2:c.2395A>C	XP_016883333.1:p.Asn799His
XM_017027845.1:c.1468A>C	XP_016883334.1:p.Asn490His
NM_004518.6:c.2368A>C	NP_004509.2:p.Asn790His
NM_172106.3:c.2398A>C	NP_742104.1:p.Asn800His
NM_172107.4:c.2452A>C MANE Select	NP_742105.1:p.Asn818His
NM_172108.5:c.2359A>C	NP_742106.1:p.Asn787His
NM_001382235.1:c.2506A>C	NP_001369164.1:p.Asn836His