Canonical Allele Identifier: CA409636820

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038118T>C (hg19) ; chr20:g.63406765T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406765T>C , CM000682.2:g.63406765T>C	GRCh38
NC_000020.10:g.62038118T>C , CM000682.1:g.62038118T>C	GRCh37
NC_000020.9:g.61508562T>C	NCBI36
NG_009004.1:g.70876A>G
NG_009004.2:g.70876A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2552A>G	ENSP00000516702.1:p.Tyr851Cys
ENST00000359125.7:c.2498A>G MANE Select	ENSP00000352035.2:p.Tyr833Cys
ENST00000637193.1:c.1895A>G	ENSP00000490734.1:p.Tyr632Cys
ENST00000344462.8:c.2405A>G	ENSP00000339611.4:p.Tyr802Cys
ENST00000357249.6:c.2066A>G	ENSP00000349789.3:p.Tyr689Cys
ENST00000359125.6:c.2498A>G	ENSP00000352035.2:p.Tyr833Cys
ENST00000360480.7:c.2414A>G	ENSP00000353668.3:p.Tyr805Cys
ENST00000370224.5:c.2241+281A>G	ENSP00000359244.2:n.2241+281A>G
ENST00000625514.2:c.2205+281A>G	ENSP00000486040.1:n.2205+281A>G
ENST00000626839.2:c.2444A>G	ENSP00000486706.1:p.Tyr815Cys
ENST00000629241.2:c.2133+281A>G	ENSP00000487142.1:n.2133+281A>G
ENST00000629676.2:c.1680-5922A>G	ENSP00000486194.1:n.1680-5922A>G
NM_004518.4:c.2414A>G	NP_004509.2:p.Tyr805Cys
NM_172106.1:c.2444A>G	NP_742104.1:p.Tyr815Cys
NM_172107.2:c.2498A>G	NP_742105.1:p.Tyr833Cys
NM_172108.3:c.2405A>G	NP_742106.1:p.Tyr802Cys
XM_006723787.1:c.2540A>G	XP_006723850.1:p.Tyr847Cys
XM_011528807.1:c.2606A>G	XP_011527109.1:p.Tyr869Cys
XM_011528808.1:c.2603A>G	XP_011527110.1:p.Tyr868Cys
XM_011528809.1:c.2576A>G	XP_011527111.1:p.Tyr859Cys
XM_011528810.1:c.2552A>G	XP_011527112.1:p.Tyr851Cys
XM_011528811.1:c.2522A>G	XP_011527113.1:p.Tyr841Cys
XM_011528812.1:c.2495A>G	XP_011527114.1:p.Tyr832Cys
XM_011528813.1:c.2480A>G	XP_011527115.1:p.Tyr827Cys
XM_011528814.1:c.2087A>G	XP_011527116.1:p.Tyr696Cys
NM_004518.5:c.2414A>G	NP_004509.2:p.Tyr805Cys
NM_172106.2:c.2444A>G	NP_742104.1:p.Tyr815Cys
NM_172107.3:c.2498A>G	NP_742105.1:p.Tyr833Cys
NM_172108.4:c.2405A>G	NP_742106.1:p.Tyr802Cys
XM_011528810.2:c.2552A>G	XP_011527112.1:p.Tyr851Cys
XM_011528811.2:c.2522A>G	XP_011527113.1:p.Tyr841Cys
XM_017027841.2:c.2549A>G	XP_016883330.1:p.Tyr850Cys
XM_017027842.2:c.2486A>G	XP_016883331.1:p.Tyr829Cys
XM_017027843.1:c.2483A>G	XP_016883332.1:p.Tyr828Cys
XM_017027844.2:c.2441A>G	XP_016883333.1:p.Tyr814Cys
XM_017027845.1:c.1514A>G	XP_016883334.1:p.Tyr505Cys
NM_004518.6:c.2414A>G	NP_004509.2:p.Tyr805Cys
NM_172106.3:c.2444A>G	NP_742104.1:p.Tyr815Cys
NM_172107.4:c.2498A>G MANE Select	NP_742105.1:p.Tyr833Cys
NM_172108.5:c.2405A>G	NP_742106.1:p.Tyr802Cys
NM_001382235.1:c.2552A>G	NP_001369164.1:p.Tyr851Cys