Canonical Allele Identifier: CA315567

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 205949
• ClinVar RCV Id: RCV000187953
• dbSNP Id: rs796052648
• MyVariant Identifiers: chr20:g.62045447G>A (hg19) ; chr20:g.63414094G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414094G>A , CM000682.2:g.63414094G>A	GRCh38
NC_000020.10:g.62045447G>A , CM000682.1:g.62045447G>A	GRCh37
NC_000020.9:g.61515891G>A	NCBI36
NG_009004.1:g.63547C>T
NG_009004.2:g.63547C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1571C>T	ENSP00000516702.1:p.Ala524Val
ENST00000359125.7:c.1625C>T MANE Select	ENSP00000352035.2:p.Ala542Val
ENST00000637193.1:c.1022C>T	ENSP00000490734.1:p.Ala341Val
ENST00000344462.8:c.1532C>T	ENSP00000339611.4:p.Ala511Val
ENST00000357249.6:c.1193C>T	ENSP00000349789.3:p.Ala398Val
ENST00000359125.6:c.1625C>T	ENSP00000352035.2:p.Ala542Val
ENST00000360480.7:c.1541C>T	ENSP00000353668.3:p.Ala514Val
ENST00000370224.5:c.1541C>T	ENSP00000359244.2:p.Ala514Val
ENST00000625514.2:c.1505C>T	ENSP00000486040.1:p.Ala502Val
ENST00000626839.2:c.1571C>T	ENSP00000486706.1:p.Ala524Val
ENST00000627221.2:c.682C>T
ENST00000629241.2:c.1541C>T	ENSP00000487142.1:p.Ala514Val
ENST00000629318.1:c.233C>T	ENSP00000487384.1:p.Ala78Val
ENST00000629676.2:c.1541C>T	ENSP00000486194.1:p.Ala514Val
NM_004518.4:c.1541C>T	NP_004509.2:p.Ala514Val
NM_172106.1:c.1571C>T	NP_742104.1:p.Ala524Val
NM_172107.2:c.1625C>T	NP_742105.1:p.Ala542Val
NM_172108.3:c.1532C>T	NP_742106.1:p.Ala511Val
XM_006723787.1:c.1625C>T	XP_006723850.1:p.Ala542Val
XM_011528807.1:c.1625C>T	XP_011527109.1:p.Ala542Val
XM_011528808.1:c.1622C>T	XP_011527110.1:p.Ala541Val
XM_011528809.1:c.1595C>T	XP_011527111.1:p.Ala532Val
XM_011528810.1:c.1571C>T	XP_011527112.1:p.Ala524Val
XM_011528811.1:c.1541C>T	XP_011527113.1:p.Ala514Val
XM_011528812.1:c.1622C>T	XP_011527114.1:p.Ala541Val
XM_011528813.1:c.1499C>T	XP_011527115.1:p.Ala500Val
XM_011528814.1:c.1106C>T	XP_011527116.1:p.Ala369Val
XM_011528815.1:c.1625C>T	XP_011527117.1:p.Ala542Val
NM_004518.5:c.1541C>T	NP_004509.2:p.Ala514Val
NM_172106.2:c.1571C>T	NP_742104.1:p.Ala524Val
NM_172107.3:c.1625C>T	NP_742105.1:p.Ala542Val
NM_172108.4:c.1532C>T	NP_742106.1:p.Ala511Val
XM_011528810.2:c.1571C>T	XP_011527112.1:p.Ala524Val
XM_011528811.2:c.1541C>T	XP_011527113.1:p.Ala514Val
XM_017027841.2:c.1568C>T	XP_016883330.1:p.Ala523Val
XM_017027842.2:c.1571C>T	XP_016883331.1:p.Ala524Val
XM_017027843.1:c.1502C>T	XP_016883332.1:p.Ala501Val
XM_017027844.2:c.1568C>T	XP_016883333.1:p.Ala523Val
XM_017027845.1:c.533C>T	XP_016883334.1:p.Ala178Val
NM_004518.6:c.1541C>T	NP_004509.2:p.Ala514Val
NM_172106.3:c.1571C>T	NP_742104.1:p.Ala524Val
NM_172107.4:c.1625C>T MANE Select	NP_742105.1:p.Ala542Val
NM_172108.5:c.1532C>T	NP_742106.1:p.Ala511Val
NM_001382235.1:c.1571C>T	NP_001369164.1:p.Ala524Val