Canonical Allele Identifier: CA409639150

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038589C>A (hg19) ; chr20:g.63407236C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407236C>A , CM000682.2:g.63407236C>A	GRCh38
NC_000020.10:g.62038589C>A , CM000682.1:g.62038589C>A	GRCh37
NC_000020.9:g.61509033C>A	NCBI36
NG_009004.1:g.70405G>T
NG_009004.2:g.70405G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2081G>T	ENSP00000516702.1:p.Ser694Ile
ENST00000359125.7:c.2027G>T MANE Select	ENSP00000352035.2:p.Ser676Ile
ENST00000637193.1:c.1424G>T	ENSP00000490734.1:p.Ser475Ile
ENST00000344462.8:c.1934G>T	ENSP00000339611.4:p.Ser645Ile
ENST00000357249.6:c.1595G>T	ENSP00000349789.3:p.Ser532Ile
ENST00000359125.6:c.2027G>T	ENSP00000352035.2:p.Ser676Ile
ENST00000360480.7:c.1943G>T	ENSP00000353668.3:p.Ser648Ile
ENST00000370224.5:c.2051G>T	ENSP00000359244.2:p.Ser684Ile
ENST00000625514.2:c.2015G>T	ENSP00000486040.1:p.Ser672Ile
ENST00000626839.2:c.1973G>T	ENSP00000486706.1:p.Ser658Ile
ENST00000629241.2:c.1943G>T	ENSP00000487142.1:p.Ser648Ile
ENST00000629676.2:c.1679+6214G>T	ENSP00000486194.1:n.1679+6214G>T
NM_004518.4:c.1943G>T	NP_004509.2:p.Ser648Ile
NM_172106.1:c.1973G>T	NP_742104.1:p.Ser658Ile
NM_172107.2:c.2027G>T	NP_742105.1:p.Ser676Ile
NM_172108.3:c.1934G>T	NP_742106.1:p.Ser645Ile
XM_006723787.1:c.2069G>T	XP_006723850.1:p.Ser690Ile
XM_011528807.1:c.2135G>T	XP_011527109.1:p.Ser712Ile
XM_011528808.1:c.2132G>T	XP_011527110.1:p.Ser711Ile
XM_011528809.1:c.2105G>T	XP_011527111.1:p.Ser702Ile
XM_011528810.1:c.2081G>T	XP_011527112.1:p.Ser694Ile
XM_011528811.1:c.2051G>T	XP_011527113.1:p.Ser684Ile
XM_011528812.1:c.2024G>T	XP_011527114.1:p.Ser675Ile
XM_011528813.1:c.2009G>T	XP_011527115.1:p.Ser670Ile
XM_011528814.1:c.1616G>T	XP_011527116.1:p.Ser539Ile
NM_004518.5:c.1943G>T	NP_004509.2:p.Ser648Ile
NM_172106.2:c.1973G>T	NP_742104.1:p.Ser658Ile
NM_172107.3:c.2027G>T	NP_742105.1:p.Ser676Ile
NM_172108.4:c.1934G>T	NP_742106.1:p.Ser645Ile
XM_011528810.2:c.2081G>T	XP_011527112.1:p.Ser694Ile
XM_011528811.2:c.2051G>T	XP_011527113.1:p.Ser684Ile
XM_017027841.2:c.2078G>T	XP_016883330.1:p.Ser693Ile
XM_017027842.2:c.2015G>T	XP_016883331.1:p.Ser672Ile
XM_017027843.1:c.2012G>T	XP_016883332.1:p.Ser671Ile
XM_017027844.2:c.1970G>T	XP_016883333.1:p.Ser657Ile
XM_017027845.1:c.1043G>T	XP_016883334.1:p.Ser348Ile
NM_004518.6:c.1943G>T	NP_004509.2:p.Ser648Ile
NM_172106.3:c.1973G>T	NP_742104.1:p.Ser658Ile
NM_172107.4:c.2027G>T MANE Select	NP_742105.1:p.Ser676Ile
NM_172108.5:c.1934G>T	NP_742106.1:p.Ser645Ile
NM_001382235.1:c.2081G>T	NP_001369164.1:p.Ser694Ile