Canonical Allele Identifier: CA409638964

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407150-G-C
• MyVariant Identifiers: chr20:g.62038503G>C (hg19) ; chr20:g.63407150G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407150G>C , CM000682.2:g.63407150G>C	GRCh38
NC_000020.10:g.62038503G>C , CM000682.1:g.62038503G>C	GRCh37
NC_000020.9:g.61508947G>C	NCBI36
NG_009004.1:g.70491C>G
NG_009004.2:g.70491C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2167C>G	ENSP00000516702.1:p.Pro723Ala
ENST00000359125.7:c.2113C>G MANE Select	ENSP00000352035.2:p.Pro705Ala
ENST00000637193.1:c.1510C>G	ENSP00000490734.1:p.Pro504Ala
ENST00000344462.8:c.2020C>G	ENSP00000339611.4:p.Pro674Ala
ENST00000357249.6:c.1681C>G	ENSP00000349789.3:p.Pro561Ala
ENST00000359125.6:c.2113C>G	ENSP00000352035.2:p.Pro705Ala
ENST00000360480.7:c.2029C>G	ENSP00000353668.3:p.Pro677Ala
ENST00000370224.5:c.2137C>G	ENSP00000359244.2:p.Pro713Ala
ENST00000625514.2:c.2101C>G	ENSP00000486040.1:p.Pro701Ala
ENST00000626839.2:c.2059C>G	ENSP00000486706.1:p.Pro687Ala
ENST00000629241.2:c.2029C>G	ENSP00000487142.1:p.Pro677Ala
ENST00000629676.2:c.1679+6300C>G	ENSP00000486194.1:n.1679+6300C>G
NM_004518.4:c.2029C>G	NP_004509.2:p.Pro677Ala
NM_172106.1:c.2059C>G	NP_742104.1:p.Pro687Ala
NM_172107.2:c.2113C>G	NP_742105.1:p.Pro705Ala
NM_172108.3:c.2020C>G	NP_742106.1:p.Pro674Ala
XM_006723787.1:c.2155C>G	XP_006723850.1:p.Pro719Ala
XM_011528807.1:c.2221C>G	XP_011527109.1:p.Pro741Ala
XM_011528808.1:c.2218C>G	XP_011527110.1:p.Pro740Ala
XM_011528809.1:c.2191C>G	XP_011527111.1:p.Pro731Ala
XM_011528810.1:c.2167C>G	XP_011527112.1:p.Pro723Ala
XM_011528811.1:c.2137C>G	XP_011527113.1:p.Pro713Ala
XM_011528812.1:c.2110C>G	XP_011527114.1:p.Pro704Ala
XM_011528813.1:c.2095C>G	XP_011527115.1:p.Pro699Ala
XM_011528814.1:c.1702C>G	XP_011527116.1:p.Pro568Ala
NM_004518.5:c.2029C>G	NP_004509.2:p.Pro677Ala
NM_172106.2:c.2059C>G	NP_742104.1:p.Pro687Ala
NM_172107.3:c.2113C>G	NP_742105.1:p.Pro705Ala
NM_172108.4:c.2020C>G	NP_742106.1:p.Pro674Ala
XM_011528810.2:c.2167C>G	XP_011527112.1:p.Pro723Ala
XM_011528811.2:c.2137C>G	XP_011527113.1:p.Pro713Ala
XM_017027841.2:c.2164C>G	XP_016883330.1:p.Pro722Ala
XM_017027842.2:c.2101C>G	XP_016883331.1:p.Pro701Ala
XM_017027843.1:c.2098C>G	XP_016883332.1:p.Pro700Ala
XM_017027844.2:c.2056C>G	XP_016883333.1:p.Pro686Ala
XM_017027845.1:c.1129C>G	XP_016883334.1:p.Pro377Ala
NM_004518.6:c.2029C>G	NP_004509.2:p.Pro677Ala
NM_172106.3:c.2059C>G	NP_742104.1:p.Pro687Ala
NM_172107.4:c.2113C>G MANE Select	NP_742105.1:p.Pro705Ala
NM_172108.5:c.2020C>G	NP_742106.1:p.Pro674Ala
NM_001382235.1:c.2167C>G	NP_001369164.1:p.Pro723Ala