Canonical Allele Identifier: CA9958174

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 651375
• ClinVar RCV Id: RCV000806722
• dbSNP Id: rs774306858
• ExAC: 20:62038610 G / A
• gnomAD v2: 20-62038610-G-A
• gnomAD v4: 20-63407257-G-A
• MyVariant Identifiers: chr20:g.62038610G>A (hg19) ; chr20:g.63407257G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407257G>A , CM000682.2:g.63407257G>A	GRCh38
NC_000020.10:g.62038610G>A , CM000682.1:g.62038610G>A	GRCh37
NC_000020.9:g.61509054G>A	NCBI36
NG_009004.1:g.70384C>T
NG_009004.2:g.70384C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2060C>T	ENSP00000516702.1:p.Pro687Leu
ENST00000359125.7:c.2006C>T MANE Select	ENSP00000352035.2:p.Pro669Leu
ENST00000637193.1:c.1403C>T	ENSP00000490734.1:p.Pro468Leu
ENST00000344462.8:c.1913C>T	ENSP00000339611.4:p.Pro638Leu
ENST00000357249.6:c.1574C>T	ENSP00000349789.3:p.Pro525Leu
ENST00000359125.6:c.2006C>T	ENSP00000352035.2:p.Pro669Leu
ENST00000360480.7:c.1922C>T	ENSP00000353668.3:p.Pro641Leu
ENST00000370224.5:c.2030C>T	ENSP00000359244.2:p.Pro677Leu
ENST00000625514.2:c.1994C>T	ENSP00000486040.1:p.Pro665Leu
ENST00000626839.2:c.1952C>T	ENSP00000486706.1:p.Pro651Leu
ENST00000629241.2:c.1922C>T	ENSP00000487142.1:p.Pro641Leu
ENST00000629676.2:c.1679+6193C>T	ENSP00000486194.1:n.1679+6193C>T
NM_004518.4:c.1922C>T	NP_004509.2:p.Pro641Leu
NM_172106.1:c.1952C>T	NP_742104.1:p.Pro651Leu
NM_172107.2:c.2006C>T	NP_742105.1:p.Pro669Leu
NM_172108.3:c.1913C>T	NP_742106.1:p.Pro638Leu
XM_006723787.1:c.2048C>T	XP_006723850.1:p.Pro683Leu
XM_011528807.1:c.2114C>T	XP_011527109.1:p.Pro705Leu
XM_011528808.1:c.2111C>T	XP_011527110.1:p.Pro704Leu
XM_011528809.1:c.2084C>T	XP_011527111.1:p.Pro695Leu
XM_011528810.1:c.2060C>T	XP_011527112.1:p.Pro687Leu
XM_011528811.1:c.2030C>T	XP_011527113.1:p.Pro677Leu
XM_011528812.1:c.2003C>T	XP_011527114.1:p.Pro668Leu
XM_011528813.1:c.1988C>T	XP_011527115.1:p.Pro663Leu
XM_011528814.1:c.1595C>T	XP_011527116.1:p.Pro532Leu
NM_004518.5:c.1922C>T	NP_004509.2:p.Pro641Leu
NM_172106.2:c.1952C>T	NP_742104.1:p.Pro651Leu
NM_172107.3:c.2006C>T	NP_742105.1:p.Pro669Leu
NM_172108.4:c.1913C>T	NP_742106.1:p.Pro638Leu
XM_011528810.2:c.2060C>T	XP_011527112.1:p.Pro687Leu
XM_011528811.2:c.2030C>T	XP_011527113.1:p.Pro677Leu
XM_017027841.2:c.2057C>T	XP_016883330.1:p.Pro686Leu
XM_017027842.2:c.1994C>T	XP_016883331.1:p.Pro665Leu
XM_017027843.1:c.1991C>T	XP_016883332.1:p.Pro664Leu
XM_017027844.2:c.1949C>T	XP_016883333.1:p.Pro650Leu
XM_017027845.1:c.1022C>T	XP_016883334.1:p.Pro341Leu
NM_004518.6:c.1922C>T	NP_004509.2:p.Pro641Leu
NM_172106.3:c.1952C>T	NP_742104.1:p.Pro651Leu
NM_172107.4:c.2006C>T MANE Select	NP_742105.1:p.Pro669Leu
NM_172108.5:c.1913C>T	NP_742106.1:p.Pro638Leu
NM_001382235.1:c.2060C>T	NP_001369164.1:p.Pro687Leu