Canonical Allele Identifier: CA409637754

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038291C>G (hg19) ; chr20:g.63406938C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406938C>G , CM000682.2:g.63406938C>G	GRCh38
NC_000020.10:g.62038291C>G , CM000682.1:g.62038291C>G	GRCh37
NC_000020.9:g.61508735C>G	NCBI36
NG_009004.1:g.70703G>C
NG_009004.2:g.70703G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2379G>C	ENSP00000516702.1:p.Arg793Ser
ENST00000359125.7:c.2325G>C MANE Select	ENSP00000352035.2:p.Arg775Ser
ENST00000637193.1:c.1722G>C	ENSP00000490734.1:p.Arg574Ser
ENST00000344462.8:c.2232G>C	ENSP00000339611.4:p.Arg744Ser
ENST00000357249.6:c.1893G>C	ENSP00000349789.3:p.Arg631Ser
ENST00000359125.6:c.2325G>C	ENSP00000352035.2:p.Arg775Ser
ENST00000360480.7:c.2241G>C	ENSP00000353668.3:p.Arg747Ser
ENST00000370224.5:c.2241+108G>C	ENSP00000359244.2:n.2241+108G>C
ENST00000625514.2:c.2205+108G>C	ENSP00000486040.1:n.2205+108G>C
ENST00000626839.2:c.2271G>C	ENSP00000486706.1:p.Arg757Ser
ENST00000629241.2:c.2133+108G>C	ENSP00000487142.1:n.2133+108G>C
ENST00000629676.2:c.1680-6095G>C	ENSP00000486194.1:n.1680-6095G>C
NM_004518.4:c.2241G>C	NP_004509.2:p.Arg747Ser
NM_172106.1:c.2271G>C	NP_742104.1:p.Arg757Ser
NM_172107.2:c.2325G>C	NP_742105.1:p.Arg775Ser
NM_172108.3:c.2232G>C	NP_742106.1:p.Arg744Ser
XM_006723787.1:c.2367G>C	XP_006723850.1:p.Arg789Ser
XM_011528807.1:c.2433G>C	XP_011527109.1:p.Arg811Ser
XM_011528808.1:c.2430G>C	XP_011527110.1:p.Arg810Ser
XM_011528809.1:c.2403G>C	XP_011527111.1:p.Arg801Ser
XM_011528810.1:c.2379G>C	XP_011527112.1:p.Arg793Ser
XM_011528811.1:c.2349G>C	XP_011527113.1:p.Arg783Ser
XM_011528812.1:c.2322G>C	XP_011527114.1:p.Arg774Ser
XM_011528813.1:c.2307G>C	XP_011527115.1:p.Arg769Ser
XM_011528814.1:c.1914G>C	XP_011527116.1:p.Arg638Ser
NM_004518.5:c.2241G>C	NP_004509.2:p.Arg747Ser
NM_172106.2:c.2271G>C	NP_742104.1:p.Arg757Ser
NM_172107.3:c.2325G>C	NP_742105.1:p.Arg775Ser
NM_172108.4:c.2232G>C	NP_742106.1:p.Arg744Ser
XM_011528810.2:c.2379G>C	XP_011527112.1:p.Arg793Ser
XM_011528811.2:c.2349G>C	XP_011527113.1:p.Arg783Ser
XM_017027841.2:c.2376G>C	XP_016883330.1:p.Arg792Ser
XM_017027842.2:c.2313G>C	XP_016883331.1:p.Arg771Ser
XM_017027843.1:c.2310G>C	XP_016883332.1:p.Arg770Ser
XM_017027844.2:c.2268G>C	XP_016883333.1:p.Arg756Ser
XM_017027845.1:c.1341G>C	XP_016883334.1:p.Arg447Ser
NM_004518.6:c.2241G>C	NP_004509.2:p.Arg747Ser
NM_172106.3:c.2271G>C	NP_742104.1:p.Arg757Ser
NM_172107.4:c.2325G>C MANE Select	NP_742105.1:p.Arg775Ser
NM_172108.5:c.2232G>C	NP_742106.1:p.Arg744Ser
NM_001382235.1:c.2379G>C	NP_001369164.1:p.Arg793Ser