Canonical Allele Identifier: CA409637191

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038202A>G (hg19) ; chr20:g.63406849A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406849A>G , CM000682.2:g.63406849A>G	GRCh38
NC_000020.10:g.62038202A>G , CM000682.1:g.62038202A>G	GRCh37
NC_000020.9:g.61508646A>G	NCBI36
NG_009004.1:g.70792T>C
NG_009004.2:g.70792T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2468T>C	ENSP00000516702.1:p.Phe823Ser
ENST00000359125.7:c.2414T>C MANE Select	ENSP00000352035.2:p.Phe805Ser
ENST00000637193.1:c.1811T>C	ENSP00000490734.1:p.Phe604Ser
ENST00000344462.8:c.2321T>C	ENSP00000339611.4:p.Phe774Ser
ENST00000357249.6:c.1982T>C	ENSP00000349789.3:p.Phe661Ser
ENST00000359125.6:c.2414T>C	ENSP00000352035.2:p.Phe805Ser
ENST00000360480.7:c.2330T>C	ENSP00000353668.3:p.Phe777Ser
ENST00000370224.5:c.2241+197T>C	ENSP00000359244.2:n.2241+197T>C
ENST00000625514.2:c.2205+197T>C	ENSP00000486040.1:n.2205+197T>C
ENST00000626839.2:c.2360T>C	ENSP00000486706.1:p.Phe787Ser
ENST00000629241.2:c.2133+197T>C	ENSP00000487142.1:n.2133+197T>C
ENST00000629676.2:c.1680-6006T>C	ENSP00000486194.1:n.1680-6006T>C
NM_004518.4:c.2330T>C	NP_004509.2:p.Phe777Ser
NM_172106.1:c.2360T>C	NP_742104.1:p.Phe787Ser
NM_172107.2:c.2414T>C	NP_742105.1:p.Phe805Ser
NM_172108.3:c.2321T>C	NP_742106.1:p.Phe774Ser
XM_006723787.1:c.2456T>C	XP_006723850.1:p.Phe819Ser
XM_011528807.1:c.2522T>C	XP_011527109.1:p.Phe841Ser
XM_011528808.1:c.2519T>C	XP_011527110.1:p.Phe840Ser
XM_011528809.1:c.2492T>C	XP_011527111.1:p.Phe831Ser
XM_011528810.1:c.2468T>C	XP_011527112.1:p.Phe823Ser
XM_011528811.1:c.2438T>C	XP_011527113.1:p.Phe813Ser
XM_011528812.1:c.2411T>C	XP_011527114.1:p.Phe804Ser
XM_011528813.1:c.2396T>C	XP_011527115.1:p.Phe799Ser
XM_011528814.1:c.2003T>C	XP_011527116.1:p.Phe668Ser
NM_004518.5:c.2330T>C	NP_004509.2:p.Phe777Ser
NM_172106.2:c.2360T>C	NP_742104.1:p.Phe787Ser
NM_172107.3:c.2414T>C	NP_742105.1:p.Phe805Ser
NM_172108.4:c.2321T>C	NP_742106.1:p.Phe774Ser
XM_011528810.2:c.2468T>C	XP_011527112.1:p.Phe823Ser
XM_011528811.2:c.2438T>C	XP_011527113.1:p.Phe813Ser
XM_017027841.2:c.2465T>C	XP_016883330.1:p.Phe822Ser
XM_017027842.2:c.2402T>C	XP_016883331.1:p.Phe801Ser
XM_017027843.1:c.2399T>C	XP_016883332.1:p.Phe800Ser
XM_017027844.2:c.2357T>C	XP_016883333.1:p.Phe786Ser
XM_017027845.1:c.1430T>C	XP_016883334.1:p.Phe477Ser
NM_004518.6:c.2330T>C	NP_004509.2:p.Phe777Ser
NM_172106.3:c.2360T>C	NP_742104.1:p.Phe787Ser
NM_172107.4:c.2414T>C MANE Select	NP_742105.1:p.Phe805Ser
NM_172108.5:c.2321T>C	NP_742106.1:p.Phe774Ser
NM_001382235.1:c.2468T>C	NP_001369164.1:p.Phe823Ser