Canonical Allele Identifier: CA315455

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 205909
• ClinVar RCV Id: RCV000187908 ; RCV002514017
• dbSNP Id: rs118192233
• MyVariant Identifiers: chr20:g.62044935C>T (hg19) ; chr20:g.63413582C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63413582C>T , CM000682.2:g.63413582C>T	GRCh38
NC_000020.10:g.62044935C>T , CM000682.1:g.62044935C>T	GRCh37
NC_000020.9:g.61515379C>T	NCBI36
NG_009004.1:g.64059G>A
NG_009004.2:g.64059G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1578-1G>A	ENSP00000516702.1:n.1578-1G>A
ENST00000359125.7:c.1632-1G>A MANE Select	ENSP00000352035.2:n.1632-1G>A
ENST00000637193.1:c.1029-1G>A	ENSP00000490734.1:n.1029-1G>A
ENST00000344462.8:c.1539-1G>A	ENSP00000339611.4:n.1539-1G>A
ENST00000357249.6:c.1200-1G>A	ENSP00000349789.3:n.1200-1G>A
ENST00000359125.6:c.1632-1G>A	ENSP00000352035.2:n.1632-1G>A
ENST00000360480.7:c.1548-1G>A	ENSP00000353668.3:n.1548-1G>A
ENST00000370224.5:c.1548-1G>A	ENSP00000359244.2:n.1548-1G>A
ENST00000625514.2:c.1512-1G>A	ENSP00000486040.1:n.1512-1G>A
ENST00000626839.2:c.1578-1G>A	ENSP00000486706.1:n.1578-1G>A
ENST00000629241.2:c.1548-1G>A	ENSP00000487142.1:n.1548-1G>A
ENST00000629318.1:c.240-1G>A	ENSP00000487384.1:n.240-1G>A
ENST00000629676.2:c.1548-1G>A	ENSP00000486194.1:n.1548-1G>A
NM_004518.4:c.1548-1G>A	NP_004509.2:n.1548-1G>A
NM_172106.1:c.1578-1G>A	NP_742104.1:n.1578-1G>A
NM_172107.2:c.1632-1G>A	NP_742105.1:n.1632-1G>A
NM_172108.3:c.1539-1G>A	NP_742106.1:n.1539-1G>A
XM_006723787.1:c.1632-1G>A	XP_006723850.1:n.1632-1G>A
XM_011528807.1:c.1632-1G>A	XP_011527109.1:n.1632-1G>A
XM_011528808.1:c.1629-1G>A	XP_011527110.1:n.1629-1G>A
XM_011528809.1:c.1602-1G>A	XP_011527111.1:n.1602-1G>A
XM_011528810.1:c.1578-1G>A	XP_011527112.1:n.1578-1G>A
XM_011528811.1:c.1548-1G>A	XP_011527113.1:n.1548-1G>A
XM_011528812.1:c.1629-1G>A	XP_011527114.1:n.1629-1G>A
XM_011528813.1:c.1506-1G>A	XP_011527115.1:n.1506-1G>A
XM_011528814.1:c.1113-1G>A	XP_011527116.1:n.1113-1G>A
XM_011528815.1:c.1632-1G>A	XP_011527117.1:n.1632-1G>A
NM_004518.5:c.1548-1G>A	NP_004509.2:n.1548-1G>A
NM_172106.2:c.1578-1G>A	NP_742104.1:n.1578-1G>A
NM_172107.3:c.1632-1G>A	NP_742105.1:n.1632-1G>A
NM_172108.4:c.1539-1G>A	NP_742106.1:n.1539-1G>A
XM_011528810.2:c.1578-1G>A	XP_011527112.1:n.1578-1G>A
XM_011528811.2:c.1548-1G>A	XP_011527113.1:n.1548-1G>A
XM_017027841.2:c.1575-1G>A	XP_016883330.1:n.1575-1G>A
XM_017027842.2:c.1578-1G>A	XP_016883331.1:n.1578-1G>A
XM_017027843.1:c.1509-1G>A	XP_016883332.1:n.1509-1G>A
XM_017027844.2:c.1575-1G>A	XP_016883333.1:n.1575-1G>A
XM_017027845.1:c.540-1G>A	XP_016883334.1:n.540-1G>A
NM_004518.6:c.1548-1G>A	NP_004509.2:n.1548-1G>A
NM_172106.3:c.1578-1G>A	NP_742104.1:n.1578-1G>A
NM_172107.4:c.1632-1G>A MANE Select	NP_742105.1:n.1632-1G>A
NM_172108.5:c.1539-1G>A	NP_742106.1:n.1539-1G>A
NM_001382235.1:c.1578-1G>A	NP_001369164.1:n.1578-1G>A