Canonical Allele Identifier: CA409636972

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038154T>G (hg19) ; chr20:g.63406801T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406801T>G , CM000682.2:g.63406801T>G	GRCh38
NC_000020.10:g.62038154T>G , CM000682.1:g.62038154T>G	GRCh37
NC_000020.9:g.61508598T>G	NCBI36
NG_009004.1:g.70840A>C
NG_009004.2:g.70840A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2516A>C	ENSP00000516702.1:p.Tyr839Ser
ENST00000359125.7:c.2462A>C MANE Select	ENSP00000352035.2:p.Tyr821Ser
ENST00000637193.1:c.1859A>C	ENSP00000490734.1:p.Tyr620Ser
ENST00000344462.8:c.2369A>C	ENSP00000339611.4:p.Tyr790Ser
ENST00000357249.6:c.2030A>C	ENSP00000349789.3:p.Tyr677Ser
ENST00000359125.6:c.2462A>C	ENSP00000352035.2:p.Tyr821Ser
ENST00000360480.7:c.2378A>C	ENSP00000353668.3:p.Tyr793Ser
ENST00000370224.5:c.2241+245A>C	ENSP00000359244.2:n.2241+245A>C
ENST00000625514.2:c.2205+245A>C	ENSP00000486040.1:n.2205+245A>C
ENST00000626839.2:c.2408A>C	ENSP00000486706.1:p.Tyr803Ser
ENST00000629241.2:c.2133+245A>C	ENSP00000487142.1:n.2133+245A>C
ENST00000629676.2:c.1680-5958A>C	ENSP00000486194.1:n.1680-5958A>C
NM_004518.4:c.2378A>C	NP_004509.2:p.Tyr793Ser
NM_172106.1:c.2408A>C	NP_742104.1:p.Tyr803Ser
NM_172107.2:c.2462A>C	NP_742105.1:p.Tyr821Ser
NM_172108.3:c.2369A>C	NP_742106.1:p.Tyr790Ser
XM_006723787.1:c.2504A>C	XP_006723850.1:p.Tyr835Ser
XM_011528807.1:c.2570A>C	XP_011527109.1:p.Tyr857Ser
XM_011528808.1:c.2567A>C	XP_011527110.1:p.Tyr856Ser
XM_011528809.1:c.2540A>C	XP_011527111.1:p.Tyr847Ser
XM_011528810.1:c.2516A>C	XP_011527112.1:p.Tyr839Ser
XM_011528811.1:c.2486A>C	XP_011527113.1:p.Tyr829Ser
XM_011528812.1:c.2459A>C	XP_011527114.1:p.Tyr820Ser
XM_011528813.1:c.2444A>C	XP_011527115.1:p.Tyr815Ser
XM_011528814.1:c.2051A>C	XP_011527116.1:p.Tyr684Ser
NM_004518.5:c.2378A>C	NP_004509.2:p.Tyr793Ser
NM_172106.2:c.2408A>C	NP_742104.1:p.Tyr803Ser
NM_172107.3:c.2462A>C	NP_742105.1:p.Tyr821Ser
NM_172108.4:c.2369A>C	NP_742106.1:p.Tyr790Ser
XM_011528810.2:c.2516A>C	XP_011527112.1:p.Tyr839Ser
XM_011528811.2:c.2486A>C	XP_011527113.1:p.Tyr829Ser
XM_017027841.2:c.2513A>C	XP_016883330.1:p.Tyr838Ser
XM_017027842.2:c.2450A>C	XP_016883331.1:p.Tyr817Ser
XM_017027843.1:c.2447A>C	XP_016883332.1:p.Tyr816Ser
XM_017027844.2:c.2405A>C	XP_016883333.1:p.Tyr802Ser
XM_017027845.1:c.1478A>C	XP_016883334.1:p.Tyr493Ser
NM_004518.6:c.2378A>C	NP_004509.2:p.Tyr793Ser
NM_172106.3:c.2408A>C	NP_742104.1:p.Tyr803Ser
NM_172107.4:c.2462A>C MANE Select	NP_742105.1:p.Tyr821Ser
NM_172108.5:c.2369A>C	NP_742106.1:p.Tyr790Ser
NM_001382235.1:c.2516A>C	NP_001369164.1:p.Tyr839Ser