Canonical Allele Identifier: CA409645569
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3065625
ClinVar RCV Id: RCV003990702
dbSNP Id: rs2080212237

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63414154C>T , CM000682.2:g.63414154C>T GRCh38
NC_000020.10:g.62045507C>T , CM000682.1:g.62045507C>T GRCh37
NC_000020.9:g.61515951C>T NCBI36
NG_009004.1:g.63487G>A
NG_009004.2:g.63487G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.1511G>A ENSP00000516702.1:p.Ser504Asn
ENST00000359125.7:c.1565G>A MANE Select ENSP00000352035.2:p.Ser522Asn
ENST00000637193.1:c.962G>A ENSP00000490734.1:p.Ser321Asn
ENST00000344462.8:c.1472G>A ENSP00000339611.4:p.Ser491Asn
ENST00000357249.6:c.1133G>A ENSP00000349789.3:p.Ser378Asn
ENST00000359125.6:c.1565G>A ENSP00000352035.2:p.Ser522Asn
ENST00000360480.7:c.1481G>A ENSP00000353668.3:p.Ser494Asn
ENST00000370224.5:c.1481G>A ENSP00000359244.2:p.Ser494Asn
ENST00000625514.2:c.1445G>A ENSP00000486040.1:p.Ser482Asn
ENST00000626839.2:c.1511G>A ENSP00000486706.1:p.Ser504Asn
ENST00000627221.2:c.622G>A
ENST00000629241.2:c.1481G>A ENSP00000487142.1:p.Ser494Asn
ENST00000629318.1:c.173G>A ENSP00000487384.1:p.Ser58Asn
ENST00000629676.2:c.1481G>A ENSP00000486194.1:p.Ser494Asn
NM_004518.4:c.1481G>A NP_004509.2:p.Ser494Asn
NM_172106.1:c.1511G>A NP_742104.1:p.Ser504Asn
NM_172107.2:c.1565G>A NP_742105.1:p.Ser522Asn
NM_172108.3:c.1472G>A NP_742106.1:p.Ser491Asn
XM_006723787.1:c.1565G>A XP_006723850.1:p.Ser522Asn
XM_011528807.1:c.1565G>A XP_011527109.1:p.Ser522Asn
XM_011528808.1:c.1562G>A XP_011527110.1:p.Ser521Asn
XM_011528809.1:c.1535G>A XP_011527111.1:p.Ser512Asn
XM_011528810.1:c.1511G>A XP_011527112.1:p.Ser504Asn
XM_011528811.1:c.1481G>A XP_011527113.1:p.Ser494Asn
XM_011528812.1:c.1562G>A XP_011527114.1:p.Ser521Asn
XM_011528813.1:c.1439G>A XP_011527115.1:p.Ser480Asn
XM_011528814.1:c.1046G>A XP_011527116.1:p.Ser349Asn
XM_011528815.1:c.1565G>A XP_011527117.1:p.Ser522Asn
NM_004518.5:c.1481G>A NP_004509.2:p.Ser494Asn
NM_172106.2:c.1511G>A NP_742104.1:p.Ser504Asn
NM_172107.3:c.1565G>A NP_742105.1:p.Ser522Asn
NM_172108.4:c.1472G>A NP_742106.1:p.Ser491Asn
XM_011528810.2:c.1511G>A XP_011527112.1:p.Ser504Asn
XM_011528811.2:c.1481G>A XP_011527113.1:p.Ser494Asn
XM_017027841.2:c.1508G>A XP_016883330.1:p.Ser503Asn
XM_017027842.2:c.1511G>A XP_016883331.1:p.Ser504Asn
XM_017027843.1:c.1442G>A XP_016883332.1:p.Ser481Asn
XM_017027844.2:c.1508G>A XP_016883333.1:p.Ser503Asn
XM_017027845.1:c.473G>A XP_016883334.1:p.Ser158Asn
NM_004518.6:c.1481G>A NP_004509.2:p.Ser494Asn
NM_172106.3:c.1511G>A NP_742104.1:p.Ser504Asn
NM_172107.4:c.1565G>A MANE Select NP_742105.1:p.Ser522Asn
NM_172108.5:c.1472G>A NP_742106.1:p.Ser491Asn
NM_001382235.1:c.1511G>A NP_001369164.1:p.Ser504Asn