Canonical Allele Identifier: CA409637394

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038236C>T (hg19) ; chr20:g.63406883C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406883C>T , CM000682.2:g.63406883C>T	GRCh38
NC_000020.10:g.62038236C>T , CM000682.1:g.62038236C>T	GRCh37
NC_000020.9:g.61508680C>T	NCBI36
NG_009004.1:g.70758G>A
NG_009004.2:g.70758G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2434G>A	ENSP00000516702.1:p.Asp812Asn
ENST00000359125.7:c.2380G>A MANE Select	ENSP00000352035.2:p.Asp794Asn
ENST00000637193.1:c.1777G>A	ENSP00000490734.1:p.Asp593Asn
ENST00000344462.8:c.2287G>A	ENSP00000339611.4:p.Asp763Asn
ENST00000357249.6:c.1948G>A	ENSP00000349789.3:p.Asp650Asn
ENST00000359125.6:c.2380G>A	ENSP00000352035.2:p.Asp794Asn
ENST00000360480.7:c.2296G>A	ENSP00000353668.3:p.Asp766Asn
ENST00000370224.5:c.2241+163G>A	ENSP00000359244.2:n.2241+163G>A
ENST00000625514.2:c.2205+163G>A	ENSP00000486040.1:n.2205+163G>A
ENST00000626839.2:c.2326G>A	ENSP00000486706.1:p.Asp776Asn
ENST00000629241.2:c.2133+163G>A	ENSP00000487142.1:n.2133+163G>A
ENST00000629676.2:c.1680-6040G>A	ENSP00000486194.1:n.1680-6040G>A
NM_004518.4:c.2296G>A	NP_004509.2:p.Asp766Asn
NM_172106.1:c.2326G>A	NP_742104.1:p.Asp776Asn
NM_172107.2:c.2380G>A	NP_742105.1:p.Asp794Asn
NM_172108.3:c.2287G>A	NP_742106.1:p.Asp763Asn
XM_006723787.1:c.2422G>A	XP_006723850.1:p.Asp808Asn
XM_011528807.1:c.2488G>A	XP_011527109.1:p.Asp830Asn
XM_011528808.1:c.2485G>A	XP_011527110.1:p.Asp829Asn
XM_011528809.1:c.2458G>A	XP_011527111.1:p.Asp820Asn
XM_011528810.1:c.2434G>A	XP_011527112.1:p.Asp812Asn
XM_011528811.1:c.2404G>A	XP_011527113.1:p.Asp802Asn
XM_011528812.1:c.2377G>A	XP_011527114.1:p.Asp793Asn
XM_011528813.1:c.2362G>A	XP_011527115.1:p.Asp788Asn
XM_011528814.1:c.1969G>A	XP_011527116.1:p.Asp657Asn
NM_004518.5:c.2296G>A	NP_004509.2:p.Asp766Asn
NM_172106.2:c.2326G>A	NP_742104.1:p.Asp776Asn
NM_172107.3:c.2380G>A	NP_742105.1:p.Asp794Asn
NM_172108.4:c.2287G>A	NP_742106.1:p.Asp763Asn
XM_011528810.2:c.2434G>A	XP_011527112.1:p.Asp812Asn
XM_011528811.2:c.2404G>A	XP_011527113.1:p.Asp802Asn
XM_017027841.2:c.2431G>A	XP_016883330.1:p.Asp811Asn
XM_017027842.2:c.2368G>A	XP_016883331.1:p.Asp790Asn
XM_017027843.1:c.2365G>A	XP_016883332.1:p.Asp789Asn
XM_017027844.2:c.2323G>A	XP_016883333.1:p.Asp775Asn
XM_017027845.1:c.1396G>A	XP_016883334.1:p.Asp466Asn
NM_004518.6:c.2296G>A	NP_004509.2:p.Asp766Asn
NM_172106.3:c.2326G>A	NP_742104.1:p.Asp776Asn
NM_172107.4:c.2380G>A MANE Select	NP_742105.1:p.Asp794Asn
NM_172108.5:c.2287G>A	NP_742106.1:p.Asp763Asn
NM_001382235.1:c.2434G>A	NP_001369164.1:p.Asp812Asn