Canonical Allele Identifier: CA409636975

Gene: KCNQ2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2515T>G	ENSP00000516702.1:p.Tyr839Asp
ENST00000359125.7:c.2461T>G MANE Select	ENSP00000352035.2:p.Tyr821Asp
ENST00000637193.1:c.1858T>G	ENSP00000490734.1:p.Tyr620Asp
ENST00000344462.8:c.2368T>G	ENSP00000339611.4:p.Tyr790Asp
ENST00000357249.6:c.2029T>G	ENSP00000349789.3:p.Tyr677Asp
ENST00000359125.6:c.2461T>G	ENSP00000352035.2:p.Tyr821Asp
ENST00000360480.7:c.2377T>G	ENSP00000353668.3:p.Tyr793Asp
ENST00000370224.5:c.2241+244T>G	ENSP00000359244.2:n.2241+244T>G
ENST00000625514.2:c.2205+244T>G	ENSP00000486040.1:n.2205+244T>G
ENST00000626839.2:c.2407T>G	ENSP00000486706.1:p.Tyr803Asp
ENST00000629241.2:c.2133+244T>G	ENSP00000487142.1:n.2133+244T>G
ENST00000629676.2:c.1680-5959T>G	ENSP00000486194.1:n.1680-5959T>G
NM_004518.4:c.2377T>G	NP_004509.2:p.Tyr793Asp
NM_172106.1:c.2407T>G	NP_742104.1:p.Tyr803Asp
NM_172107.2:c.2461T>G	NP_742105.1:p.Tyr821Asp
NM_172108.3:c.2368T>G	NP_742106.1:p.Tyr790Asp
XM_006723787.1:c.2503T>G	XP_006723850.1:p.Tyr835Asp
XM_011528807.1:c.2569T>G	XP_011527109.1:p.Tyr857Asp
XM_011528808.1:c.2566T>G	XP_011527110.1:p.Tyr856Asp
XM_011528809.1:c.2539T>G	XP_011527111.1:p.Tyr847Asp
XM_011528810.1:c.2515T>G	XP_011527112.1:p.Tyr839Asp
XM_011528811.1:c.2485T>G	XP_011527113.1:p.Tyr829Asp
XM_011528812.1:c.2458T>G	XP_011527114.1:p.Tyr820Asp
XM_011528813.1:c.2443T>G	XP_011527115.1:p.Tyr815Asp
XM_011528814.1:c.2050T>G	XP_011527116.1:p.Tyr684Asp
NM_004518.5:c.2377T>G	NP_004509.2:p.Tyr793Asp
NM_172106.2:c.2407T>G	NP_742104.1:p.Tyr803Asp
NM_172107.3:c.2461T>G	NP_742105.1:p.Tyr821Asp
NM_172108.4:c.2368T>G	NP_742106.1:p.Tyr790Asp
XM_011528810.2:c.2515T>G	XP_011527112.1:p.Tyr839Asp
XM_011528811.2:c.2485T>G	XP_011527113.1:p.Tyr829Asp
XM_017027841.2:c.2512T>G	XP_016883330.1:p.Tyr838Asp
XM_017027842.2:c.2449T>G	XP_016883331.1:p.Tyr817Asp
XM_017027843.1:c.2446T>G	XP_016883332.1:p.Tyr816Asp
XM_017027844.2:c.2404T>G	XP_016883333.1:p.Tyr802Asp
XM_017027845.1:c.1477T>G	XP_016883334.1:p.Tyr493Asp
NM_004518.6:c.2377T>G	NP_004509.2:p.Tyr793Asp
NM_172106.3:c.2407T>G	NP_742104.1:p.Tyr803Asp
NM_172107.4:c.2461T>G MANE Select	NP_742105.1:p.Tyr821Asp
NM_172108.5:c.2368T>G	NP_742106.1:p.Tyr790Asp
NM_001382235.1:c.2515T>G	NP_001369164.1:p.Tyr839Asp