Canonical Allele Identifier: CA409637137

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038191G>C (hg19) ; chr20:g.63406838G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406838G>C , CM000682.2:g.63406838G>C	GRCh38
NC_000020.10:g.62038191G>C , CM000682.1:g.62038191G>C	GRCh37
NC_000020.9:g.61508635G>C	NCBI36
NG_009004.1:g.70803C>G
NG_009004.2:g.70803C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2479C>G	ENSP00000516702.1:p.Gln827Glu
ENST00000359125.7:c.2425C>G MANE Select	ENSP00000352035.2:p.Gln809Glu
ENST00000637193.1:c.1822C>G	ENSP00000490734.1:p.Gln608Glu
ENST00000344462.8:c.2332C>G	ENSP00000339611.4:p.Gln778Glu
ENST00000357249.6:c.1993C>G	ENSP00000349789.3:p.Gln665Glu
ENST00000359125.6:c.2425C>G	ENSP00000352035.2:p.Gln809Glu
ENST00000360480.7:c.2341C>G	ENSP00000353668.3:p.Gln781Glu
ENST00000370224.5:c.2241+208C>G	ENSP00000359244.2:n.2241+208C>G
ENST00000625514.2:c.2205+208C>G	ENSP00000486040.1:n.2205+208C>G
ENST00000626839.2:c.2371C>G	ENSP00000486706.1:p.Gln791Glu
ENST00000629241.2:c.2133+208C>G	ENSP00000487142.1:n.2133+208C>G
ENST00000629676.2:c.1680-5995C>G	ENSP00000486194.1:n.1680-5995C>G
NM_004518.4:c.2341C>G	NP_004509.2:p.Gln781Glu
NM_172106.1:c.2371C>G	NP_742104.1:p.Gln791Glu
NM_172107.2:c.2425C>G	NP_742105.1:p.Gln809Glu
NM_172108.3:c.2332C>G	NP_742106.1:p.Gln778Glu
XM_006723787.1:c.2467C>G	XP_006723850.1:p.Gln823Glu
XM_011528807.1:c.2533C>G	XP_011527109.1:p.Gln845Glu
XM_011528808.1:c.2530C>G	XP_011527110.1:p.Gln844Glu
XM_011528809.1:c.2503C>G	XP_011527111.1:p.Gln835Glu
XM_011528810.1:c.2479C>G	XP_011527112.1:p.Gln827Glu
XM_011528811.1:c.2449C>G	XP_011527113.1:p.Gln817Glu
XM_011528812.1:c.2422C>G	XP_011527114.1:p.Gln808Glu
XM_011528813.1:c.2407C>G	XP_011527115.1:p.Gln803Glu
XM_011528814.1:c.2014C>G	XP_011527116.1:p.Gln672Glu
NM_004518.5:c.2341C>G	NP_004509.2:p.Gln781Glu
NM_172106.2:c.2371C>G	NP_742104.1:p.Gln791Glu
NM_172107.3:c.2425C>G	NP_742105.1:p.Gln809Glu
NM_172108.4:c.2332C>G	NP_742106.1:p.Gln778Glu
XM_011528810.2:c.2479C>G	XP_011527112.1:p.Gln827Glu
XM_011528811.2:c.2449C>G	XP_011527113.1:p.Gln817Glu
XM_017027841.2:c.2476C>G	XP_016883330.1:p.Gln826Glu
XM_017027842.2:c.2413C>G	XP_016883331.1:p.Gln805Glu
XM_017027843.1:c.2410C>G	XP_016883332.1:p.Gln804Glu
XM_017027844.2:c.2368C>G	XP_016883333.1:p.Gln790Glu
XM_017027845.1:c.1441C>G	XP_016883334.1:p.Gln481Glu
NM_004518.6:c.2341C>G	NP_004509.2:p.Gln781Glu
NM_172106.3:c.2371C>G	NP_742104.1:p.Gln791Glu
NM_172107.4:c.2425C>G MANE Select	NP_742105.1:p.Gln809Glu
NM_172108.5:c.2332C>G	NP_742106.1:p.Gln778Glu
NM_001382235.1:c.2479C>G	NP_001369164.1:p.Gln827Glu