Canonical Allele Identifier: CA409637232

Gene: KCNQ2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2461A>C	ENSP00000516702.1:p.Ser821Arg
ENST00000359125.7:c.2407A>C MANE Select	ENSP00000352035.2:p.Ser803Arg
ENST00000637193.1:c.1804A>C	ENSP00000490734.1:p.Ser602Arg
ENST00000344462.8:c.2314A>C	ENSP00000339611.4:p.Ser772Arg
ENST00000357249.6:c.1975A>C	ENSP00000349789.3:p.Ser659Arg
ENST00000359125.6:c.2407A>C	ENSP00000352035.2:p.Ser803Arg
ENST00000360480.7:c.2323A>C	ENSP00000353668.3:p.Ser775Arg
ENST00000370224.5:c.2241+190A>C	ENSP00000359244.2:n.2241+190A>C
ENST00000625514.2:c.2205+190A>C	ENSP00000486040.1:n.2205+190A>C
ENST00000626839.2:c.2353A>C	ENSP00000486706.1:p.Ser785Arg
ENST00000629241.2:c.2133+190A>C	ENSP00000487142.1:n.2133+190A>C
ENST00000629676.2:c.1680-6013A>C	ENSP00000486194.1:n.1680-6013A>C
NM_004518.4:c.2323A>C	NP_004509.2:p.Ser775Arg
NM_172106.1:c.2353A>C	NP_742104.1:p.Ser785Arg
NM_172107.2:c.2407A>C	NP_742105.1:p.Ser803Arg
NM_172108.3:c.2314A>C	NP_742106.1:p.Ser772Arg
XM_006723787.1:c.2449A>C	XP_006723850.1:p.Ser817Arg
XM_011528807.1:c.2515A>C	XP_011527109.1:p.Ser839Arg
XM_011528808.1:c.2512A>C	XP_011527110.1:p.Ser838Arg
XM_011528809.1:c.2485A>C	XP_011527111.1:p.Ser829Arg
XM_011528810.1:c.2461A>C	XP_011527112.1:p.Ser821Arg
XM_011528811.1:c.2431A>C	XP_011527113.1:p.Ser811Arg
XM_011528812.1:c.2404A>C	XP_011527114.1:p.Ser802Arg
XM_011528813.1:c.2389A>C	XP_011527115.1:p.Ser797Arg
XM_011528814.1:c.1996A>C	XP_011527116.1:p.Ser666Arg
NM_004518.5:c.2323A>C	NP_004509.2:p.Ser775Arg
NM_172106.2:c.2353A>C	NP_742104.1:p.Ser785Arg
NM_172107.3:c.2407A>C	NP_742105.1:p.Ser803Arg
NM_172108.4:c.2314A>C	NP_742106.1:p.Ser772Arg
XM_011528810.2:c.2461A>C	XP_011527112.1:p.Ser821Arg
XM_011528811.2:c.2431A>C	XP_011527113.1:p.Ser811Arg
XM_017027841.2:c.2458A>C	XP_016883330.1:p.Ser820Arg
XM_017027842.2:c.2395A>C	XP_016883331.1:p.Ser799Arg
XM_017027843.1:c.2392A>C	XP_016883332.1:p.Ser798Arg
XM_017027844.2:c.2350A>C	XP_016883333.1:p.Ser784Arg
XM_017027845.1:c.1423A>C	XP_016883334.1:p.Ser475Arg
NM_004518.6:c.2323A>C	NP_004509.2:p.Ser775Arg
NM_172106.3:c.2353A>C	NP_742104.1:p.Ser785Arg
NM_172107.4:c.2407A>C MANE Select	NP_742105.1:p.Ser803Arg
NM_172108.5:c.2314A>C	NP_742106.1:p.Ser772Arg
NM_001382235.1:c.2461A>C	NP_001369164.1:p.Ser821Arg