Canonical Allele Identifier: CA409638893

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038482A>T (hg19) ; chr20:g.63407129A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407129A>T , CM000682.2:g.63407129A>T	GRCh38
NC_000020.10:g.62038482A>T , CM000682.1:g.62038482A>T	GRCh37
NC_000020.9:g.61508926A>T	NCBI36
NG_009004.1:g.70512T>A
NG_009004.2:g.70512T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2188T>A	ENSP00000516702.1:p.Cys730Ser
ENST00000359125.7:c.2134T>A MANE Select	ENSP00000352035.2:p.Cys712Ser
ENST00000637193.1:c.1531T>A	ENSP00000490734.1:p.Cys511Ser
ENST00000344462.8:c.2041T>A	ENSP00000339611.4:p.Cys681Ser
ENST00000357249.6:c.1702T>A	ENSP00000349789.3:p.Cys568Ser
ENST00000359125.6:c.2134T>A	ENSP00000352035.2:p.Cys712Ser
ENST00000360480.7:c.2050T>A	ENSP00000353668.3:p.Cys684Ser
ENST00000370224.5:c.2158T>A	ENSP00000359244.2:p.Cys720Ser
ENST00000625514.2:c.2122T>A	ENSP00000486040.1:p.Cys708Ser
ENST00000626839.2:c.2080T>A	ENSP00000486706.1:p.Cys694Ser
ENST00000629241.2:c.2050T>A	ENSP00000487142.1:p.Cys684Ser
ENST00000629676.2:c.1680-6286T>A	ENSP00000486194.1:n.1680-6286T>A
NM_004518.4:c.2050T>A	NP_004509.2:p.Cys684Ser
NM_172106.1:c.2080T>A	NP_742104.1:p.Cys694Ser
NM_172107.2:c.2134T>A	NP_742105.1:p.Cys712Ser
NM_172108.3:c.2041T>A	NP_742106.1:p.Cys681Ser
XM_006723787.1:c.2176T>A	XP_006723850.1:p.Cys726Ser
XM_011528807.1:c.2242T>A	XP_011527109.1:p.Cys748Ser
XM_011528808.1:c.2239T>A	XP_011527110.1:p.Cys747Ser
XM_011528809.1:c.2212T>A	XP_011527111.1:p.Cys738Ser
XM_011528810.1:c.2188T>A	XP_011527112.1:p.Cys730Ser
XM_011528811.1:c.2158T>A	XP_011527113.1:p.Cys720Ser
XM_011528812.1:c.2131T>A	XP_011527114.1:p.Cys711Ser
XM_011528813.1:c.2116T>A	XP_011527115.1:p.Cys706Ser
XM_011528814.1:c.1723T>A	XP_011527116.1:p.Cys575Ser
NM_004518.5:c.2050T>A	NP_004509.2:p.Cys684Ser
NM_172106.2:c.2080T>A	NP_742104.1:p.Cys694Ser
NM_172107.3:c.2134T>A	NP_742105.1:p.Cys712Ser
NM_172108.4:c.2041T>A	NP_742106.1:p.Cys681Ser
XM_011528810.2:c.2188T>A	XP_011527112.1:p.Cys730Ser
XM_011528811.2:c.2158T>A	XP_011527113.1:p.Cys720Ser
XM_017027841.2:c.2185T>A	XP_016883330.1:p.Cys729Ser
XM_017027842.2:c.2122T>A	XP_016883331.1:p.Cys708Ser
XM_017027843.1:c.2119T>A	XP_016883332.1:p.Cys707Ser
XM_017027844.2:c.2077T>A	XP_016883333.1:p.Cys693Ser
XM_017027845.1:c.1150T>A	XP_016883334.1:p.Cys384Ser
NM_004518.6:c.2050T>A	NP_004509.2:p.Cys684Ser
NM_172106.3:c.2080T>A	NP_742104.1:p.Cys694Ser
NM_172107.4:c.2134T>A MANE Select	NP_742105.1:p.Cys712Ser
NM_172108.5:c.2041T>A	NP_742106.1:p.Cys681Ser
NM_001382235.1:c.2188T>A	NP_001369164.1:p.Cys730Ser