Canonical Allele Identifier: CA409639153

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038590T>A (hg19) ; chr20:g.63407237T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407237T>A , CM000682.2:g.63407237T>A	GRCh38
NC_000020.10:g.62038590T>A , CM000682.1:g.62038590T>A	GRCh37
NC_000020.9:g.61509034T>A	NCBI36
NG_009004.1:g.70404A>T
NG_009004.2:g.70404A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2080A>T	ENSP00000516702.1:p.Ser694Cys
ENST00000359125.7:c.2026A>T MANE Select	ENSP00000352035.2:p.Ser676Cys
ENST00000637193.1:c.1423A>T	ENSP00000490734.1:p.Ser475Cys
ENST00000344462.8:c.1933A>T	ENSP00000339611.4:p.Ser645Cys
ENST00000357249.6:c.1594A>T	ENSP00000349789.3:p.Ser532Cys
ENST00000359125.6:c.2026A>T	ENSP00000352035.2:p.Ser676Cys
ENST00000360480.7:c.1942A>T	ENSP00000353668.3:p.Ser648Cys
ENST00000370224.5:c.2050A>T	ENSP00000359244.2:p.Ser684Cys
ENST00000625514.2:c.2014A>T	ENSP00000486040.1:p.Ser672Cys
ENST00000626839.2:c.1972A>T	ENSP00000486706.1:p.Ser658Cys
ENST00000629241.2:c.1942A>T	ENSP00000487142.1:p.Ser648Cys
ENST00000629676.2:c.1679+6213A>T	ENSP00000486194.1:n.1679+6213A>T
NM_004518.4:c.1942A>T	NP_004509.2:p.Ser648Cys
NM_172106.1:c.1972A>T	NP_742104.1:p.Ser658Cys
NM_172107.2:c.2026A>T	NP_742105.1:p.Ser676Cys
NM_172108.3:c.1933A>T	NP_742106.1:p.Ser645Cys
XM_006723787.1:c.2068A>T	XP_006723850.1:p.Ser690Cys
XM_011528807.1:c.2134A>T	XP_011527109.1:p.Ser712Cys
XM_011528808.1:c.2131A>T	XP_011527110.1:p.Ser711Cys
XM_011528809.1:c.2104A>T	XP_011527111.1:p.Ser702Cys
XM_011528810.1:c.2080A>T	XP_011527112.1:p.Ser694Cys
XM_011528811.1:c.2050A>T	XP_011527113.1:p.Ser684Cys
XM_011528812.1:c.2023A>T	XP_011527114.1:p.Ser675Cys
XM_011528813.1:c.2008A>T	XP_011527115.1:p.Ser670Cys
XM_011528814.1:c.1615A>T	XP_011527116.1:p.Ser539Cys
NM_004518.5:c.1942A>T	NP_004509.2:p.Ser648Cys
NM_172106.2:c.1972A>T	NP_742104.1:p.Ser658Cys
NM_172107.3:c.2026A>T	NP_742105.1:p.Ser676Cys
NM_172108.4:c.1933A>T	NP_742106.1:p.Ser645Cys
XM_011528810.2:c.2080A>T	XP_011527112.1:p.Ser694Cys
XM_011528811.2:c.2050A>T	XP_011527113.1:p.Ser684Cys
XM_017027841.2:c.2077A>T	XP_016883330.1:p.Ser693Cys
XM_017027842.2:c.2014A>T	XP_016883331.1:p.Ser672Cys
XM_017027843.1:c.2011A>T	XP_016883332.1:p.Ser671Cys
XM_017027844.2:c.1969A>T	XP_016883333.1:p.Ser657Cys
XM_017027845.1:c.1042A>T	XP_016883334.1:p.Ser348Cys
NM_004518.6:c.1942A>T	NP_004509.2:p.Ser648Cys
NM_172106.3:c.1972A>T	NP_742104.1:p.Ser658Cys
NM_172107.4:c.2026A>T MANE Select	NP_742105.1:p.Ser676Cys
NM_172108.5:c.1933A>T	NP_742106.1:p.Ser645Cys
NM_001382235.1:c.2080A>T	NP_001369164.1:p.Ser694Cys