Canonical Allele Identifier: CA409637229

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038209T>A (hg19) ; chr20:g.63406856T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406856T>A , CM000682.2:g.63406856T>A	GRCh38
NC_000020.10:g.62038209T>A , CM000682.1:g.62038209T>A	GRCh37
NC_000020.9:g.61508653T>A	NCBI36
NG_009004.1:g.70785A>T
NG_009004.2:g.70785A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2461A>T	ENSP00000516702.1:p.Ser821Cys
ENST00000359125.7:c.2407A>T MANE Select	ENSP00000352035.2:p.Ser803Cys
ENST00000637193.1:c.1804A>T	ENSP00000490734.1:p.Ser602Cys
ENST00000344462.8:c.2314A>T	ENSP00000339611.4:p.Ser772Cys
ENST00000357249.6:c.1975A>T	ENSP00000349789.3:p.Ser659Cys
ENST00000359125.6:c.2407A>T	ENSP00000352035.2:p.Ser803Cys
ENST00000360480.7:c.2323A>T	ENSP00000353668.3:p.Ser775Cys
ENST00000370224.5:c.2241+190A>T	ENSP00000359244.2:n.2241+190A>T
ENST00000625514.2:c.2205+190A>T	ENSP00000486040.1:n.2205+190A>T
ENST00000626839.2:c.2353A>T	ENSP00000486706.1:p.Ser785Cys
ENST00000629241.2:c.2133+190A>T	ENSP00000487142.1:n.2133+190A>T
ENST00000629676.2:c.1680-6013A>T	ENSP00000486194.1:n.1680-6013A>T
NM_004518.4:c.2323A>T	NP_004509.2:p.Ser775Cys
NM_172106.1:c.2353A>T	NP_742104.1:p.Ser785Cys
NM_172107.2:c.2407A>T	NP_742105.1:p.Ser803Cys
NM_172108.3:c.2314A>T	NP_742106.1:p.Ser772Cys
XM_006723787.1:c.2449A>T	XP_006723850.1:p.Ser817Cys
XM_011528807.1:c.2515A>T	XP_011527109.1:p.Ser839Cys
XM_011528808.1:c.2512A>T	XP_011527110.1:p.Ser838Cys
XM_011528809.1:c.2485A>T	XP_011527111.1:p.Ser829Cys
XM_011528810.1:c.2461A>T	XP_011527112.1:p.Ser821Cys
XM_011528811.1:c.2431A>T	XP_011527113.1:p.Ser811Cys
XM_011528812.1:c.2404A>T	XP_011527114.1:p.Ser802Cys
XM_011528813.1:c.2389A>T	XP_011527115.1:p.Ser797Cys
XM_011528814.1:c.1996A>T	XP_011527116.1:p.Ser666Cys
NM_004518.5:c.2323A>T	NP_004509.2:p.Ser775Cys
NM_172106.2:c.2353A>T	NP_742104.1:p.Ser785Cys
NM_172107.3:c.2407A>T	NP_742105.1:p.Ser803Cys
NM_172108.4:c.2314A>T	NP_742106.1:p.Ser772Cys
XM_011528810.2:c.2461A>T	XP_011527112.1:p.Ser821Cys
XM_011528811.2:c.2431A>T	XP_011527113.1:p.Ser811Cys
XM_017027841.2:c.2458A>T	XP_016883330.1:p.Ser820Cys
XM_017027842.2:c.2395A>T	XP_016883331.1:p.Ser799Cys
XM_017027843.1:c.2392A>T	XP_016883332.1:p.Ser798Cys
XM_017027844.2:c.2350A>T	XP_016883333.1:p.Ser784Cys
XM_017027845.1:c.1423A>T	XP_016883334.1:p.Ser475Cys
NM_004518.6:c.2323A>T	NP_004509.2:p.Ser775Cys
NM_172106.3:c.2353A>T	NP_742104.1:p.Ser785Cys
NM_172107.4:c.2407A>T MANE Select	NP_742105.1:p.Ser803Cys
NM_172108.5:c.2314A>T	NP_742106.1:p.Ser772Cys
NM_001382235.1:c.2461A>T	NP_001369164.1:p.Ser821Cys