Canonical Allele Identifier: CA409637185

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038200T>A (hg19) ; chr20:g.63406847T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406847T>A , CM000682.2:g.63406847T>A	GRCh38
NC_000020.10:g.62038200T>A , CM000682.1:g.62038200T>A	GRCh37
NC_000020.9:g.61508644T>A	NCBI36
NG_009004.1:g.70794A>T
NG_009004.2:g.70794A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2470A>T	ENSP00000516702.1:p.Ser824Cys
ENST00000359125.7:c.2416A>T MANE Select	ENSP00000352035.2:p.Ser806Cys
ENST00000637193.1:c.1813A>T	ENSP00000490734.1:p.Ser605Cys
ENST00000344462.8:c.2323A>T	ENSP00000339611.4:p.Ser775Cys
ENST00000357249.6:c.1984A>T	ENSP00000349789.3:p.Ser662Cys
ENST00000359125.6:c.2416A>T	ENSP00000352035.2:p.Ser806Cys
ENST00000360480.7:c.2332A>T	ENSP00000353668.3:p.Ser778Cys
ENST00000370224.5:c.2241+199A>T	ENSP00000359244.2:n.2241+199A>T
ENST00000625514.2:c.2205+199A>T	ENSP00000486040.1:n.2205+199A>T
ENST00000626839.2:c.2362A>T	ENSP00000486706.1:p.Ser788Cys
ENST00000629241.2:c.2133+199A>T	ENSP00000487142.1:n.2133+199A>T
ENST00000629676.2:c.1680-6004A>T	ENSP00000486194.1:n.1680-6004A>T
NM_004518.4:c.2332A>T	NP_004509.2:p.Ser778Cys
NM_172106.1:c.2362A>T	NP_742104.1:p.Ser788Cys
NM_172107.2:c.2416A>T	NP_742105.1:p.Ser806Cys
NM_172108.3:c.2323A>T	NP_742106.1:p.Ser775Cys
XM_006723787.1:c.2458A>T	XP_006723850.1:p.Ser820Cys
XM_011528807.1:c.2524A>T	XP_011527109.1:p.Ser842Cys
XM_011528808.1:c.2521A>T	XP_011527110.1:p.Ser841Cys
XM_011528809.1:c.2494A>T	XP_011527111.1:p.Ser832Cys
XM_011528810.1:c.2470A>T	XP_011527112.1:p.Ser824Cys
XM_011528811.1:c.2440A>T	XP_011527113.1:p.Ser814Cys
XM_011528812.1:c.2413A>T	XP_011527114.1:p.Ser805Cys
XM_011528813.1:c.2398A>T	XP_011527115.1:p.Ser800Cys
XM_011528814.1:c.2005A>T	XP_011527116.1:p.Ser669Cys
NM_004518.5:c.2332A>T	NP_004509.2:p.Ser778Cys
NM_172106.2:c.2362A>T	NP_742104.1:p.Ser788Cys
NM_172107.3:c.2416A>T	NP_742105.1:p.Ser806Cys
NM_172108.4:c.2323A>T	NP_742106.1:p.Ser775Cys
XM_011528810.2:c.2470A>T	XP_011527112.1:p.Ser824Cys
XM_011528811.2:c.2440A>T	XP_011527113.1:p.Ser814Cys
XM_017027841.2:c.2467A>T	XP_016883330.1:p.Ser823Cys
XM_017027842.2:c.2404A>T	XP_016883331.1:p.Ser802Cys
XM_017027843.1:c.2401A>T	XP_016883332.1:p.Ser801Cys
XM_017027844.2:c.2359A>T	XP_016883333.1:p.Ser787Cys
XM_017027845.1:c.1432A>T	XP_016883334.1:p.Ser478Cys
NM_004518.6:c.2332A>T	NP_004509.2:p.Ser778Cys
NM_172106.3:c.2362A>T	NP_742104.1:p.Ser788Cys
NM_172107.4:c.2416A>T MANE Select	NP_742105.1:p.Ser806Cys
NM_172108.5:c.2323A>T	NP_742106.1:p.Ser775Cys
NM_001382235.1:c.2470A>T	NP_001369164.1:p.Ser824Cys