Canonical Allele Identifier: CA409639122

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 804958
• ClinVar RCV Id: RCV000992227 ; RCV002549787
• dbSNP Id: rs1380546879
• gnomAD v2: 20-62038575-C-T
• gnomAD v4: 20-63407222-C-T
• MyVariant Identifiers: chr20:g.62038575C>T (hg19) ; chr20:g.63407222C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407222C>T , CM000682.2:g.63407222C>T	GRCh38
NC_000020.10:g.62038575C>T , CM000682.1:g.62038575C>T	GRCh37
NC_000020.9:g.61509019C>T	NCBI36
NG_009004.1:g.70419G>A
NG_009004.2:g.70419G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2095G>A	ENSP00000516702.1:p.Asp699Asn
ENST00000359125.7:c.2041G>A MANE Select	ENSP00000352035.2:p.Asp681Asn
ENST00000637193.1:c.1438G>A	ENSP00000490734.1:p.Asp480Asn
ENST00000344462.8:c.1948G>A	ENSP00000339611.4:p.Asp650Asn
ENST00000357249.6:c.1609G>A	ENSP00000349789.3:p.Asp537Asn
ENST00000359125.6:c.2041G>A	ENSP00000352035.2:p.Asp681Asn
ENST00000360480.7:c.1957G>A	ENSP00000353668.3:p.Asp653Asn
ENST00000370224.5:c.2065G>A	ENSP00000359244.2:p.Asp689Asn
ENST00000625514.2:c.2029G>A	ENSP00000486040.1:p.Asp677Asn
ENST00000626839.2:c.1987G>A	ENSP00000486706.1:p.Asp663Asn
ENST00000629241.2:c.1957G>A	ENSP00000487142.1:p.Asp653Asn
ENST00000629676.2:c.1679+6228G>A	ENSP00000486194.1:n.1679+6228G>A
NM_004518.4:c.1957G>A	NP_004509.2:p.Asp653Asn
NM_172106.1:c.1987G>A	NP_742104.1:p.Asp663Asn
NM_172107.2:c.2041G>A	NP_742105.1:p.Asp681Asn
NM_172108.3:c.1948G>A	NP_742106.1:p.Asp650Asn
XM_006723787.1:c.2083G>A	XP_006723850.1:p.Asp695Asn
XM_011528807.1:c.2149G>A	XP_011527109.1:p.Asp717Asn
XM_011528808.1:c.2146G>A	XP_011527110.1:p.Asp716Asn
XM_011528809.1:c.2119G>A	XP_011527111.1:p.Asp707Asn
XM_011528810.1:c.2095G>A	XP_011527112.1:p.Asp699Asn
XM_011528811.1:c.2065G>A	XP_011527113.1:p.Asp689Asn
XM_011528812.1:c.2038G>A	XP_011527114.1:p.Asp680Asn
XM_011528813.1:c.2023G>A	XP_011527115.1:p.Asp675Asn
XM_011528814.1:c.1630G>A	XP_011527116.1:p.Asp544Asn
NM_004518.5:c.1957G>A	NP_004509.2:p.Asp653Asn
NM_172106.2:c.1987G>A	NP_742104.1:p.Asp663Asn
NM_172107.3:c.2041G>A	NP_742105.1:p.Asp681Asn
NM_172108.4:c.1948G>A	NP_742106.1:p.Asp650Asn
XM_011528810.2:c.2095G>A	XP_011527112.1:p.Asp699Asn
XM_011528811.2:c.2065G>A	XP_011527113.1:p.Asp689Asn
XM_017027841.2:c.2092G>A	XP_016883330.1:p.Asp698Asn
XM_017027842.2:c.2029G>A	XP_016883331.1:p.Asp677Asn
XM_017027843.1:c.2026G>A	XP_016883332.1:p.Asp676Asn
XM_017027844.2:c.1984G>A	XP_016883333.1:p.Asp662Asn
XM_017027845.1:c.1057G>A	XP_016883334.1:p.Asp353Asn
NM_004518.6:c.1957G>A	NP_004509.2:p.Asp653Asn
NM_172106.3:c.1987G>A	NP_742104.1:p.Asp663Asn
NM_172107.4:c.2041G>A MANE Select	NP_742105.1:p.Asp681Asn
NM_172108.5:c.1948G>A	NP_742106.1:p.Asp650Asn
NM_001382235.1:c.2095G>A	NP_001369164.1:p.Asp699Asn