Canonical Allele Identifier: CA409637483

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038251A>G (hg19) ; chr20:g.63406898A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406898A>G , CM000682.2:g.63406898A>G	GRCh38
NC_000020.10:g.62038251A>G , CM000682.1:g.62038251A>G	GRCh37
NC_000020.9:g.61508695A>G	NCBI36
NG_009004.1:g.70743T>C
NG_009004.2:g.70743T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2419T>C	ENSP00000516702.1:p.Ser807Pro
ENST00000359125.7:c.2365T>C MANE Select	ENSP00000352035.2:p.Ser789Pro
ENST00000637193.1:c.1762T>C	ENSP00000490734.1:p.Ser588Pro
ENST00000344462.8:c.2272T>C	ENSP00000339611.4:p.Ser758Pro
ENST00000357249.6:c.1933T>C	ENSP00000349789.3:p.Ser645Pro
ENST00000359125.6:c.2365T>C	ENSP00000352035.2:p.Ser789Pro
ENST00000360480.7:c.2281T>C	ENSP00000353668.3:p.Ser761Pro
ENST00000370224.5:c.2241+148T>C	ENSP00000359244.2:n.2241+148T>C
ENST00000625514.2:c.2205+148T>C	ENSP00000486040.1:n.2205+148T>C
ENST00000626839.2:c.2311T>C	ENSP00000486706.1:p.Ser771Pro
ENST00000629241.2:c.2133+148T>C	ENSP00000487142.1:n.2133+148T>C
ENST00000629676.2:c.1680-6055T>C	ENSP00000486194.1:n.1680-6055T>C
NM_004518.4:c.2281T>C	NP_004509.2:p.Ser761Pro
NM_172106.1:c.2311T>C	NP_742104.1:p.Ser771Pro
NM_172107.2:c.2365T>C	NP_742105.1:p.Ser789Pro
NM_172108.3:c.2272T>C	NP_742106.1:p.Ser758Pro
XM_006723787.1:c.2407T>C	XP_006723850.1:p.Ser803Pro
XM_011528807.1:c.2473T>C	XP_011527109.1:p.Ser825Pro
XM_011528808.1:c.2470T>C	XP_011527110.1:p.Ser824Pro
XM_011528809.1:c.2443T>C	XP_011527111.1:p.Ser815Pro
XM_011528810.1:c.2419T>C	XP_011527112.1:p.Ser807Pro
XM_011528811.1:c.2389T>C	XP_011527113.1:p.Ser797Pro
XM_011528812.1:c.2362T>C	XP_011527114.1:p.Ser788Pro
XM_011528813.1:c.2347T>C	XP_011527115.1:p.Ser783Pro
XM_011528814.1:c.1954T>C	XP_011527116.1:p.Ser652Pro
NM_004518.5:c.2281T>C	NP_004509.2:p.Ser761Pro
NM_172106.2:c.2311T>C	NP_742104.1:p.Ser771Pro
NM_172107.3:c.2365T>C	NP_742105.1:p.Ser789Pro
NM_172108.4:c.2272T>C	NP_742106.1:p.Ser758Pro
XM_011528810.2:c.2419T>C	XP_011527112.1:p.Ser807Pro
XM_011528811.2:c.2389T>C	XP_011527113.1:p.Ser797Pro
XM_017027841.2:c.2416T>C	XP_016883330.1:p.Ser806Pro
XM_017027842.2:c.2353T>C	XP_016883331.1:p.Ser785Pro
XM_017027843.1:c.2350T>C	XP_016883332.1:p.Ser784Pro
XM_017027844.2:c.2308T>C	XP_016883333.1:p.Ser770Pro
XM_017027845.1:c.1381T>C	XP_016883334.1:p.Ser461Pro
NM_004518.6:c.2281T>C	NP_004509.2:p.Ser761Pro
NM_172106.3:c.2311T>C	NP_742104.1:p.Ser771Pro
NM_172107.4:c.2365T>C MANE Select	NP_742105.1:p.Ser789Pro
NM_172108.5:c.2272T>C	NP_742106.1:p.Ser758Pro
NM_001382235.1:c.2419T>C	NP_001369164.1:p.Ser807Pro