Canonical Allele Identifier: CA409639323

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 809268
• ClinVar RCV Id: RCV000997802
• dbSNP Id: rs1459962137
• gnomAD v4: 20-63407299-G-T
• MyVariant Identifiers: chr20:g.62038652G>T (hg19) ; chr20:g.63407299G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407299G>T , CM000682.2:g.63407299G>T	GRCh38
NC_000020.10:g.62038652G>T , CM000682.1:g.62038652G>T	GRCh37
NC_000020.9:g.61509096G>T	NCBI36
NG_009004.1:g.70342C>A
NG_009004.2:g.70342C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2018C>A	ENSP00000516702.1:p.Thr673Asn
ENST00000359125.7:c.1964C>A MANE Select	ENSP00000352035.2:p.Thr655Asn
ENST00000637193.1:c.1361C>A	ENSP00000490734.1:p.Thr454Asn
ENST00000344462.8:c.1871C>A	ENSP00000339611.4:p.Thr624Asn
ENST00000357249.6:c.1532C>A	ENSP00000349789.3:p.Thr511Asn
ENST00000359125.6:c.1964C>A	ENSP00000352035.2:p.Thr655Asn
ENST00000360480.7:c.1880C>A	ENSP00000353668.3:p.Thr627Asn
ENST00000370224.5:c.1988C>A	ENSP00000359244.2:p.Thr663Asn
ENST00000625514.2:c.1952C>A	ENSP00000486040.1:p.Thr651Asn
ENST00000626839.2:c.1910C>A	ENSP00000486706.1:p.Thr637Asn
ENST00000629241.2:c.1880C>A	ENSP00000487142.1:p.Thr627Asn
ENST00000629676.2:c.1679+6151C>A	ENSP00000486194.1:n.1679+6151C>A
NM_004518.4:c.1880C>A	NP_004509.2:p.Thr627Asn
NM_172106.1:c.1910C>A	NP_742104.1:p.Thr637Asn
NM_172107.2:c.1964C>A	NP_742105.1:p.Thr655Asn
NM_172108.3:c.1871C>A	NP_742106.1:p.Thr624Asn
XM_006723787.1:c.2006C>A	XP_006723850.1:p.Thr669Asn
XM_011528807.1:c.2072C>A	XP_011527109.1:p.Thr691Asn
XM_011528808.1:c.2069C>A	XP_011527110.1:p.Thr690Asn
XM_011528809.1:c.2042C>A	XP_011527111.1:p.Thr681Asn
XM_011528810.1:c.2018C>A	XP_011527112.1:p.Thr673Asn
XM_011528811.1:c.1988C>A	XP_011527113.1:p.Thr663Asn
XM_011528812.1:c.1961C>A	XP_011527114.1:p.Thr654Asn
XM_011528813.1:c.1946C>A	XP_011527115.1:p.Thr649Asn
XM_011528814.1:c.1553C>A	XP_011527116.1:p.Thr518Asn
NM_004518.5:c.1880C>A	NP_004509.2:p.Thr627Asn
NM_172106.2:c.1910C>A	NP_742104.1:p.Thr637Asn
NM_172107.3:c.1964C>A	NP_742105.1:p.Thr655Asn
NM_172108.4:c.1871C>A	NP_742106.1:p.Thr624Asn
XM_011528810.2:c.2018C>A	XP_011527112.1:p.Thr673Asn
XM_011528811.2:c.1988C>A	XP_011527113.1:p.Thr663Asn
XM_017027841.2:c.2015C>A	XP_016883330.1:p.Thr672Asn
XM_017027842.2:c.1952C>A	XP_016883331.1:p.Thr651Asn
XM_017027843.1:c.1949C>A	XP_016883332.1:p.Thr650Asn
XM_017027844.2:c.1907C>A	XP_016883333.1:p.Thr636Asn
XM_017027845.1:c.980C>A	XP_016883334.1:p.Thr327Asn
NM_004518.6:c.1880C>A	NP_004509.2:p.Thr627Asn
NM_172106.3:c.1910C>A	NP_742104.1:p.Thr637Asn
NM_172107.4:c.1964C>A MANE Select	NP_742105.1:p.Thr655Asn
NM_172108.5:c.1871C>A	NP_742106.1:p.Thr624Asn
NM_001382235.1:c.2018C>A	NP_001369164.1:p.Thr673Asn