Canonical Allele Identifier: CA511203849

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62045443C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414090C>T , CM000682.2:g.63414090C>T	GRCh38
NC_000020.10:g.62045443C>T , CM000682.1:g.62045443C>T	GRCh37
NC_000020.9:g.61515887C>T	NCBI36
NG_009004.1:g.63551G>A
NG_009004.2:g.63551G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1575G>A	ENSP00000516702.1:p.Val525=
ENST00000359125.7:c.1629G>A MANE Select	ENSP00000352035.2:p.Val543=
ENST00000637193.1:c.1026G>A	ENSP00000490734.1:p.Val342=
ENST00000344462.8:c.1536G>A	ENSP00000339611.4:p.Val512=
ENST00000357249.6:c.1197G>A	ENSP00000349789.3:p.Val399=
ENST00000359125.6:c.1629G>A	ENSP00000352035.2:p.Val543=
ENST00000360480.7:c.1545G>A	ENSP00000353668.3:p.Val515=
ENST00000370224.5:c.1545G>A	ENSP00000359244.2:p.Val515=
ENST00000625514.2:c.1509G>A	ENSP00000486040.1:p.Val503=
ENST00000626839.2:c.1575G>A	ENSP00000486706.1:p.Val525=
ENST00000627221.2:c.686G>A
ENST00000629241.2:c.1545G>A	ENSP00000487142.1:p.Val515=
ENST00000629318.1:c.237G>A	ENSP00000487384.1:p.Val79=
ENST00000629676.2:c.1545G>A	ENSP00000486194.1:p.Val515=
NM_004518.4:c.1545G>A	NP_004509.2:p.Val515=
NM_172106.1:c.1575G>A	NP_742104.1:p.Val525=
NM_172107.2:c.1629G>A	NP_742105.1:p.Val543=
NM_172108.3:c.1536G>A	NP_742106.1:p.Val512=
XM_006723787.1:c.1629G>A	XP_006723850.1:p.Val543=
XM_011528807.1:c.1629G>A	XP_011527109.1:p.Val543=
XM_011528808.1:c.1626G>A	XP_011527110.1:p.Val542=
XM_011528809.1:c.1599G>A	XP_011527111.1:p.Val533=
XM_011528810.1:c.1575G>A	XP_011527112.1:p.Val525=
XM_011528811.1:c.1545G>A	XP_011527113.1:p.Val515=
XM_011528812.1:c.1626G>A	XP_011527114.1:p.Val542=
XM_011528813.1:c.1503G>A	XP_011527115.1:p.Val501=
XM_011528814.1:c.1110G>A	XP_011527116.1:p.Val370=
XM_011528815.1:c.1629G>A	XP_011527117.1:p.Val543=
NM_004518.5:c.1545G>A	NP_004509.2:p.Val515=
NM_172106.2:c.1575G>A	NP_742104.1:p.Val525=
NM_172107.3:c.1629G>A	NP_742105.1:p.Val543=
NM_172108.4:c.1536G>A	NP_742106.1:p.Val512=
XM_011528810.2:c.1575G>A	XP_011527112.1:p.Val525=
XM_011528811.2:c.1545G>A	XP_011527113.1:p.Val515=
XM_017027841.2:c.1572G>A	XP_016883330.1:p.Val524=
XM_017027842.2:c.1575G>A	XP_016883331.1:p.Val525=
XM_017027843.1:c.1506G>A	XP_016883332.1:p.Val502=
XM_017027844.2:c.1572G>A	XP_016883333.1:p.Val524=
XM_017027845.1:c.537G>A	XP_016883334.1:p.Val179=
NM_004518.6:c.1545G>A	NP_004509.2:p.Val515=
NM_172106.3:c.1575G>A	NP_742104.1:p.Val525=
NM_172107.4:c.1629G>A MANE Select	NP_742105.1:p.Val543=
NM_172108.5:c.1536G>A	NP_742106.1:p.Val512=
NM_001382235.1:c.1575G>A	NP_001369164.1:p.Val525=