Canonical Allele Identifier: CA409636978

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038155A>T (hg19) ; chr20:g.63406802A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406802A>T , CM000682.2:g.63406802A>T	GRCh38
NC_000020.10:g.62038155A>T , CM000682.1:g.62038155A>T	GRCh37
NC_000020.9:g.61508599A>T	NCBI36
NG_009004.1:g.70839T>A
NG_009004.2:g.70839T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2515T>A	ENSP00000516702.1:p.Tyr839Asn
ENST00000359125.7:c.2461T>A MANE Select	ENSP00000352035.2:p.Tyr821Asn
ENST00000637193.1:c.1858T>A	ENSP00000490734.1:p.Tyr620Asn
ENST00000344462.8:c.2368T>A	ENSP00000339611.4:p.Tyr790Asn
ENST00000357249.6:c.2029T>A	ENSP00000349789.3:p.Tyr677Asn
ENST00000359125.6:c.2461T>A	ENSP00000352035.2:p.Tyr821Asn
ENST00000360480.7:c.2377T>A	ENSP00000353668.3:p.Tyr793Asn
ENST00000370224.5:c.2241+244T>A	ENSP00000359244.2:n.2241+244T>A
ENST00000625514.2:c.2205+244T>A	ENSP00000486040.1:n.2205+244T>A
ENST00000626839.2:c.2407T>A	ENSP00000486706.1:p.Tyr803Asn
ENST00000629241.2:c.2133+244T>A	ENSP00000487142.1:n.2133+244T>A
ENST00000629676.2:c.1680-5959T>A	ENSP00000486194.1:n.1680-5959T>A
NM_004518.4:c.2377T>A	NP_004509.2:p.Tyr793Asn
NM_172106.1:c.2407T>A	NP_742104.1:p.Tyr803Asn
NM_172107.2:c.2461T>A	NP_742105.1:p.Tyr821Asn
NM_172108.3:c.2368T>A	NP_742106.1:p.Tyr790Asn
XM_006723787.1:c.2503T>A	XP_006723850.1:p.Tyr835Asn
XM_011528807.1:c.2569T>A	XP_011527109.1:p.Tyr857Asn
XM_011528808.1:c.2566T>A	XP_011527110.1:p.Tyr856Asn
XM_011528809.1:c.2539T>A	XP_011527111.1:p.Tyr847Asn
XM_011528810.1:c.2515T>A	XP_011527112.1:p.Tyr839Asn
XM_011528811.1:c.2485T>A	XP_011527113.1:p.Tyr829Asn
XM_011528812.1:c.2458T>A	XP_011527114.1:p.Tyr820Asn
XM_011528813.1:c.2443T>A	XP_011527115.1:p.Tyr815Asn
XM_011528814.1:c.2050T>A	XP_011527116.1:p.Tyr684Asn
NM_004518.5:c.2377T>A	NP_004509.2:p.Tyr793Asn
NM_172106.2:c.2407T>A	NP_742104.1:p.Tyr803Asn
NM_172107.3:c.2461T>A	NP_742105.1:p.Tyr821Asn
NM_172108.4:c.2368T>A	NP_742106.1:p.Tyr790Asn
XM_011528810.2:c.2515T>A	XP_011527112.1:p.Tyr839Asn
XM_011528811.2:c.2485T>A	XP_011527113.1:p.Tyr829Asn
XM_017027841.2:c.2512T>A	XP_016883330.1:p.Tyr838Asn
XM_017027842.2:c.2449T>A	XP_016883331.1:p.Tyr817Asn
XM_017027843.1:c.2446T>A	XP_016883332.1:p.Tyr816Asn
XM_017027844.2:c.2404T>A	XP_016883333.1:p.Tyr802Asn
XM_017027845.1:c.1477T>A	XP_016883334.1:p.Tyr493Asn
NM_004518.6:c.2377T>A	NP_004509.2:p.Tyr793Asn
NM_172106.3:c.2407T>A	NP_742104.1:p.Tyr803Asn
NM_172107.4:c.2461T>A MANE Select	NP_742105.1:p.Tyr821Asn
NM_172108.5:c.2368T>A	NP_742106.1:p.Tyr790Asn
NM_001382235.1:c.2515T>A	NP_001369164.1:p.Tyr839Asn