Canonical Allele Identifier: CA16043113

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 372677
• ClinVar RCV Id: RCV000413758 ; RCV001377685 ; RCV002275019 ; RCV003392228
• dbSNP Id: rs1057517919
• gnomAD v4: 20-63413534-C-T
• MyVariant Identifiers: chr20:g.62044887C>T (hg19) ; chr20:g.63413534C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63413534C>T , CM000682.2:g.63413534C>T	GRCh38
NC_000020.10:g.62044887C>T , CM000682.1:g.62044887C>T	GRCh37
NC_000020.9:g.61515331C>T	NCBI36
NG_009004.1:g.64107G>A
NG_009004.2:g.64107G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1625G>A	ENSP00000516702.1:p.Arg542Gln
ENST00000359125.7:c.1679G>A MANE Select	ENSP00000352035.2:p.Arg560Gln
ENST00000637193.1:c.1076G>A	ENSP00000490734.1:p.Arg359Gln
ENST00000344462.8:c.1586G>A	ENSP00000339611.4:p.Arg529Gln
ENST00000357249.6:c.1247G>A	ENSP00000349789.3:p.Arg416Gln
ENST00000359125.6:c.1679G>A	ENSP00000352035.2:p.Arg560Gln
ENST00000360480.7:c.1595G>A	ENSP00000353668.3:p.Arg532Gln
ENST00000370224.5:c.1595G>A	ENSP00000359244.2:p.Arg532Gln
ENST00000625514.2:c.1559G>A	ENSP00000486040.1:p.Arg520Gln
ENST00000626839.2:c.1625G>A	ENSP00000486706.1:p.Arg542Gln
ENST00000629241.2:c.1595G>A	ENSP00000487142.1:p.Arg532Gln
ENST00000629318.1:c.287G>A	ENSP00000487384.1:p.Arg96Gln
ENST00000629676.2:c.1595G>A	ENSP00000486194.1:p.Arg532Gln
NM_004518.4:c.1595G>A	NP_004509.2:p.Arg532Gln
NM_172106.1:c.1625G>A	NP_742104.1:p.Arg542Gln
NM_172107.2:c.1679G>A	NP_742105.1:p.Arg560Gln
NM_172108.3:c.1586G>A	NP_742106.1:p.Arg529Gln
XM_006723787.1:c.1679G>A	XP_006723850.1:p.Arg560Gln
XM_011528807.1:c.1679G>A	XP_011527109.1:p.Arg560Gln
XM_011528808.1:c.1676G>A	XP_011527110.1:p.Arg559Gln
XM_011528809.1:c.1649G>A	XP_011527111.1:p.Arg550Gln
XM_011528810.1:c.1625G>A	XP_011527112.1:p.Arg542Gln
XM_011528811.1:c.1595G>A	XP_011527113.1:p.Arg532Gln
XM_011528812.1:c.1676G>A	XP_011527114.1:p.Arg559Gln
XM_011528813.1:c.1553G>A	XP_011527115.1:p.Arg518Gln
XM_011528814.1:c.1160G>A	XP_011527116.1:p.Arg387Gln
XM_011528815.1:c.1679G>A	XP_011527117.1:p.Arg560Gln
NM_004518.5:c.1595G>A	NP_004509.2:p.Arg532Gln
NM_172106.2:c.1625G>A	NP_742104.1:p.Arg542Gln
NM_172107.3:c.1679G>A	NP_742105.1:p.Arg560Gln
NM_172108.4:c.1586G>A	NP_742106.1:p.Arg529Gln
XM_011528810.2:c.1625G>A	XP_011527112.1:p.Arg542Gln
XM_011528811.2:c.1595G>A	XP_011527113.1:p.Arg532Gln
XM_017027841.2:c.1622G>A	XP_016883330.1:p.Arg541Gln
XM_017027842.2:c.1625G>A	XP_016883331.1:p.Arg542Gln
XM_017027843.1:c.1556G>A	XP_016883332.1:p.Arg519Gln
XM_017027844.2:c.1622G>A	XP_016883333.1:p.Arg541Gln
XM_017027845.1:c.587G>A	XP_016883334.1:p.Arg196Gln
NM_004518.6:c.1595G>A	NP_004509.2:p.Arg532Gln
NM_172106.3:c.1625G>A	NP_742104.1:p.Arg542Gln
NM_172107.4:c.1679G>A MANE Select	NP_742105.1:p.Arg560Gln
NM_172108.5:c.1586G>A	NP_742106.1:p.Arg529Gln
NM_001382235.1:c.1625G>A	NP_001369164.1:p.Arg542Gln