Canonical Allele Identifier: CA409637135

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 813752
• ClinVar RCV Id: RCV001004690
• MyVariant Identifiers: chr20:g.62038191G>A (hg19) ; chr20:g.63406838G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2479C>T	ENSP00000516702.1:p.Gln827Ter
ENST00000359125.7:c.2425C>T MANE Select	ENSP00000352035.2:p.Gln809Ter
ENST00000637193.1:c.1822C>T	ENSP00000490734.1:p.Gln608Ter
ENST00000344462.8:c.2332C>T	ENSP00000339611.4:p.Gln778Ter
ENST00000357249.6:c.1993C>T	ENSP00000349789.3:p.Gln665Ter
ENST00000359125.6:c.2425C>T	ENSP00000352035.2:p.Gln809Ter
ENST00000360480.7:c.2341C>T	ENSP00000353668.3:p.Gln781Ter
ENST00000370224.5:c.2241+208C>T	ENSP00000359244.2:n.2241+208C>T
ENST00000625514.2:c.2205+208C>T	ENSP00000486040.1:n.2205+208C>T
ENST00000626839.2:c.2371C>T	ENSP00000486706.1:p.Gln791Ter
ENST00000629241.2:c.2133+208C>T	ENSP00000487142.1:n.2133+208C>T
ENST00000629676.2:c.1680-5995C>T	ENSP00000486194.1:n.1680-5995C>T
NM_004518.4:c.2341C>T	NP_004509.2:p.Gln781Ter
NM_172106.1:c.2371C>T	NP_742104.1:p.Gln791Ter
NM_172107.2:c.2425C>T	NP_742105.1:p.Gln809Ter
NM_172108.3:c.2332C>T	NP_742106.1:p.Gln778Ter
XM_006723787.1:c.2467C>T	XP_006723850.1:p.Gln823Ter
XM_011528807.1:c.2533C>T	XP_011527109.1:p.Gln845Ter
XM_011528808.1:c.2530C>T	XP_011527110.1:p.Gln844Ter
XM_011528809.1:c.2503C>T	XP_011527111.1:p.Gln835Ter
XM_011528810.1:c.2479C>T	XP_011527112.1:p.Gln827Ter
XM_011528811.1:c.2449C>T	XP_011527113.1:p.Gln817Ter
XM_011528812.1:c.2422C>T	XP_011527114.1:p.Gln808Ter
XM_011528813.1:c.2407C>T	XP_011527115.1:p.Gln803Ter
XM_011528814.1:c.2014C>T	XP_011527116.1:p.Gln672Ter
NM_004518.5:c.2341C>T	NP_004509.2:p.Gln781Ter
NM_172106.2:c.2371C>T	NP_742104.1:p.Gln791Ter
NM_172107.3:c.2425C>T	NP_742105.1:p.Gln809Ter
NM_172108.4:c.2332C>T	NP_742106.1:p.Gln778Ter
XM_011528810.2:c.2479C>T	XP_011527112.1:p.Gln827Ter
XM_011528811.2:c.2449C>T	XP_011527113.1:p.Gln817Ter
XM_017027841.2:c.2476C>T	XP_016883330.1:p.Gln826Ter
XM_017027842.2:c.2413C>T	XP_016883331.1:p.Gln805Ter
XM_017027843.1:c.2410C>T	XP_016883332.1:p.Gln804Ter
XM_017027844.2:c.2368C>T	XP_016883333.1:p.Gln790Ter
XM_017027845.1:c.1441C>T	XP_016883334.1:p.Gln481Ter
NM_004518.6:c.2341C>T	NP_004509.2:p.Gln781Ter
NM_172106.3:c.2371C>T	NP_742104.1:p.Gln791Ter
NM_172107.4:c.2425C>T MANE Select	NP_742105.1:p.Gln809Ter
NM_172108.5:c.2332C>T	NP_742106.1:p.Gln778Ter
NM_001382235.1:c.2479C>T	NP_001369164.1:p.Gln827Ter