Canonical Allele Identifier: CA409638966

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1786118
• ClinVar RCV Id: RCV002417495 ; RCV003098627
• dbSNP Id: rs1215394494
• gnomAD v2: 20-62038505-G-A
• gnomAD v3: 20-63407152-G-A
• gnomAD v4: 20-63407152-G-A
• MyVariant Identifiers: chr20:g.62038505G>A (hg19) ; chr20:g.63407152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407152G>A , CM000682.2:g.63407152G>A	GRCh38
NC_000020.10:g.62038505G>A , CM000682.1:g.62038505G>A	GRCh37
NC_000020.9:g.61508949G>A	NCBI36
NG_009004.1:g.70489C>T
NG_009004.2:g.70489C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2165C>T	ENSP00000516702.1:p.Pro722Leu
ENST00000359125.7:c.2111C>T MANE Select	ENSP00000352035.2:p.Pro704Leu
ENST00000637193.1:c.1508C>T	ENSP00000490734.1:p.Pro503Leu
ENST00000344462.8:c.2018C>T	ENSP00000339611.4:p.Pro673Leu
ENST00000357249.6:c.1679C>T	ENSP00000349789.3:p.Pro560Leu
ENST00000359125.6:c.2111C>T	ENSP00000352035.2:p.Pro704Leu
ENST00000360480.7:c.2027C>T	ENSP00000353668.3:p.Pro676Leu
ENST00000370224.5:c.2135C>T	ENSP00000359244.2:p.Pro712Leu
ENST00000625514.2:c.2099C>T	ENSP00000486040.1:p.Pro700Leu
ENST00000626839.2:c.2057C>T	ENSP00000486706.1:p.Pro686Leu
ENST00000629241.2:c.2027C>T	ENSP00000487142.1:p.Pro676Leu
ENST00000629676.2:c.1679+6298C>T	ENSP00000486194.1:n.1679+6298C>T
NM_004518.4:c.2027C>T	NP_004509.2:p.Pro676Leu
NM_172106.1:c.2057C>T	NP_742104.1:p.Pro686Leu
NM_172107.2:c.2111C>T	NP_742105.1:p.Pro704Leu
NM_172108.3:c.2018C>T	NP_742106.1:p.Pro673Leu
XM_006723787.1:c.2153C>T	XP_006723850.1:p.Pro718Leu
XM_011528807.1:c.2219C>T	XP_011527109.1:p.Pro740Leu
XM_011528808.1:c.2216C>T	XP_011527110.1:p.Pro739Leu
XM_011528809.1:c.2189C>T	XP_011527111.1:p.Pro730Leu
XM_011528810.1:c.2165C>T	XP_011527112.1:p.Pro722Leu
XM_011528811.1:c.2135C>T	XP_011527113.1:p.Pro712Leu
XM_011528812.1:c.2108C>T	XP_011527114.1:p.Pro703Leu
XM_011528813.1:c.2093C>T	XP_011527115.1:p.Pro698Leu
XM_011528814.1:c.1700C>T	XP_011527116.1:p.Pro567Leu
NM_004518.5:c.2027C>T	NP_004509.2:p.Pro676Leu
NM_172106.2:c.2057C>T	NP_742104.1:p.Pro686Leu
NM_172107.3:c.2111C>T	NP_742105.1:p.Pro704Leu
NM_172108.4:c.2018C>T	NP_742106.1:p.Pro673Leu
XM_011528810.2:c.2165C>T	XP_011527112.1:p.Pro722Leu
XM_011528811.2:c.2135C>T	XP_011527113.1:p.Pro712Leu
XM_017027841.2:c.2162C>T	XP_016883330.1:p.Pro721Leu
XM_017027842.2:c.2099C>T	XP_016883331.1:p.Pro700Leu
XM_017027843.1:c.2096C>T	XP_016883332.1:p.Pro699Leu
XM_017027844.2:c.2054C>T	XP_016883333.1:p.Pro685Leu
XM_017027845.1:c.1127C>T	XP_016883334.1:p.Pro376Leu
NM_004518.6:c.2027C>T	NP_004509.2:p.Pro676Leu
NM_172106.3:c.2057C>T	NP_742104.1:p.Pro686Leu
NM_172107.4:c.2111C>T MANE Select	NP_742105.1:p.Pro704Leu
NM_172108.5:c.2018C>T	NP_742106.1:p.Pro673Leu
NM_001382235.1:c.2165C>T	NP_001369164.1:p.Pro722Leu