Canonical Allele Identifier: CA511339246

Gene: KCNQ2

Linked Data

• dbSNP Id: rs749958721
• MyVariant Identifiers: chr20:g.62038243C>A (hg19) ; chr20:g.63406890C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406890C>A , CM000682.2:g.63406890C>A	GRCh38
NC_000020.10:g.62038243C>A , CM000682.1:g.62038243C>A	GRCh37
NC_000020.9:g.61508687C>A	NCBI36
NG_009004.1:g.70751G>T
NG_009004.2:g.70751G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2427G>T	ENSP00000516702.1:p.Pro809=
ENST00000359125.7:c.2373G>T MANE Select	ENSP00000352035.2:p.Pro791=
ENST00000637193.1:c.1770G>T	ENSP00000490734.1:p.Pro590=
ENST00000344462.8:c.2280G>T	ENSP00000339611.4:p.Pro760=
ENST00000357249.6:c.1941G>T	ENSP00000349789.3:p.Pro647=
ENST00000359125.6:c.2373G>T	ENSP00000352035.2:p.Pro791=
ENST00000360480.7:c.2289G>T	ENSP00000353668.3:p.Pro763=
ENST00000370224.5:c.2241+156G>T	ENSP00000359244.2:n.2241+156G>T
ENST00000625514.2:c.2205+156G>T	ENSP00000486040.1:n.2205+156G>T
ENST00000626839.2:c.2319G>T	ENSP00000486706.1:p.Pro773=
ENST00000629241.2:c.2133+156G>T	ENSP00000487142.1:n.2133+156G>T
ENST00000629676.2:c.1680-6047G>T	ENSP00000486194.1:n.1680-6047G>T
NM_004518.4:c.2289G>T	NP_004509.2:p.Pro763=
NM_172106.1:c.2319G>T	NP_742104.1:p.Pro773=
NM_172107.2:c.2373G>T	NP_742105.1:p.Pro791=
NM_172108.3:c.2280G>T	NP_742106.1:p.Pro760=
XM_006723787.1:c.2415G>T	XP_006723850.1:p.Pro805=
XM_011528807.1:c.2481G>T	XP_011527109.1:p.Pro827=
XM_011528808.1:c.2478G>T	XP_011527110.1:p.Pro826=
XM_011528809.1:c.2451G>T	XP_011527111.1:p.Pro817=
XM_011528810.1:c.2427G>T	XP_011527112.1:p.Pro809=
XM_011528811.1:c.2397G>T	XP_011527113.1:p.Pro799=
XM_011528812.1:c.2370G>T	XP_011527114.1:p.Pro790=
XM_011528813.1:c.2355G>T	XP_011527115.1:p.Pro785=
XM_011528814.1:c.1962G>T	XP_011527116.1:p.Pro654=
NM_004518.5:c.2289G>T	NP_004509.2:p.Pro763=
NM_172106.2:c.2319G>T	NP_742104.1:p.Pro773=
NM_172107.3:c.2373G>T	NP_742105.1:p.Pro791=
NM_172108.4:c.2280G>T	NP_742106.1:p.Pro760=
XM_011528810.2:c.2427G>T	XP_011527112.1:p.Pro809=
XM_011528811.2:c.2397G>T	XP_011527113.1:p.Pro799=
XM_017027841.2:c.2424G>T	XP_016883330.1:p.Pro808=
XM_017027842.2:c.2361G>T	XP_016883331.1:p.Pro787=
XM_017027843.1:c.2358G>T	XP_016883332.1:p.Pro786=
XM_017027844.2:c.2316G>T	XP_016883333.1:p.Pro772=
XM_017027845.1:c.1389G>T	XP_016883334.1:p.Pro463=
NM_004518.6:c.2289G>T	NP_004509.2:p.Pro763=
NM_172106.3:c.2319G>T	NP_742104.1:p.Pro773=
NM_172107.4:c.2373G>T MANE Select	NP_742105.1:p.Pro791=
NM_172108.5:c.2280G>T	NP_742106.1:p.Pro760=
NM_001382235.1:c.2427G>T	NP_001369164.1:p.Pro809=