Canonical Allele Identifier: CA315440

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 205903
• ClinVar RCV Id: RCV001857619
• dbSNP Id: rs139164500
• gnomAD v4: 20-63419661-G-C
• MyVariant Identifiers: chr20:g.62051014G>C (hg19) ; chr20:g.63419661G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63419661G>C , CM000682.2:g.63419661G>C	GRCh38
NC_000020.10:g.62051014G>C , CM000682.1:g.62051014G>C	GRCh37
NC_000020.9:g.61521458G>C	NCBI36
NG_009004.1:g.57980C>G
NG_009004.2:g.57980C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1247+4516C>G	ENSP00000516702.1:n.1247+4516C>G
ENST00000359125.7:c.1259C>G MANE Select	ENSP00000352035.2:p.Pro420Arg
ENST00000635867.1:n.83C>G
ENST00000637193.1:c.698+4516C>G	ENSP00000490734.1:n.698+4516C>G
ENST00000637584.1:n.74+4426C>G
ENST00000344462.8:c.1247+4516C>G	ENSP00000339611.4:n.1247+4516C>G
ENST00000357249.6:c.905+4516C>G	ENSP00000349789.3:n.905+4516C>G
ENST00000359125.6:c.1259C>G	ENSP00000352035.2:p.Pro420Arg
ENST00000360480.7:c.1217+4516C>G	ENSP00000353668.3:n.1217+4516C>G
ENST00000370224.5:c.1217+4516C>G	ENSP00000359244.2:n.1217+4516C>G
ENST00000625514.2:c.1217+4516C>G	ENSP00000486040.1:n.1217+4516C>G
ENST00000626839.2:c.1247+4516C>G	ENSP00000486706.1:n.1247+4516C>G
ENST00000627221.2:c.361+4516C>G
ENST00000629241.2:c.1217+4516C>G	ENSP00000487142.1:n.1217+4516C>G
ENST00000629676.2:c.1217+4516C>G	ENSP00000486194.1:n.1217+4516C>G
NM_004518.4:c.1217+4516C>G	NP_004509.2:n.1217+4516C>G
NM_172106.1:c.1247+4516C>G	NP_742104.1:n.1247+4516C>G
NM_172107.2:c.1259C>G	NP_742105.1:p.Pro420Arg
NM_172108.3:c.1247+4516C>G	NP_742106.1:n.1247+4516C>G
XM_006723787.1:c.1259C>G	XP_006723850.1:p.Pro420Arg
XM_011528807.1:c.1259C>G	XP_011527109.1:p.Pro420Arg
XM_011528808.1:c.1259C>G	XP_011527110.1:p.Pro420Arg
XM_011528809.1:c.1229C>G	XP_011527111.1:p.Pro410Arg
XM_011528810.1:c.1247+4516C>G	XP_011527112.1:n.1247+4516C>G
XM_011528811.1:c.1217+4516C>G	XP_011527113.1:n.1217+4516C>G
XM_011528812.1:c.1259C>G	XP_011527114.1:p.Pro420Arg
XM_011528813.1:c.1133C>G	XP_011527115.1:p.Pro378Arg
XM_011528814.1:c.740C>G	XP_011527116.1:p.Pro247Arg
XM_011528815.1:c.1259C>G	XP_011527117.1:p.Pro420Arg
NM_004518.5:c.1217+4516C>G	NP_004509.2:n.1217+4516C>G
NM_172106.2:c.1247+4516C>G	NP_742104.1:n.1247+4516C>G
NM_172107.3:c.1259C>G	NP_742105.1:p.Pro420Arg
NM_172108.4:c.1247+4516C>G	NP_742106.1:n.1247+4516C>G
XM_011528810.2:c.1247+4516C>G	XP_011527112.1:n.1247+4516C>G
XM_011528811.2:c.1217+4516C>G	XP_011527113.1:n.1217+4516C>G
XM_017027841.2:c.1247+4516C>G	XP_016883330.1:n.1247+4516C>G
XM_017027842.2:c.1247+4516C>G	XP_016883331.1:n.1247+4516C>G
XM_017027843.1:c.1178+4516C>G	XP_016883332.1:n.1178+4516C>G
XM_017027844.2:c.1247+4516C>G	XP_016883333.1:n.1247+4516C>G
XM_017027845.1:c.167C>G	XP_016883334.1:p.Pro56Arg
NM_004518.6:c.1217+4516C>G	NP_004509.2:n.1217+4516C>G
NM_172106.3:c.1247+4516C>G	NP_742104.1:n.1247+4516C>G
NM_172107.4:c.1259C>G MANE Select	NP_742105.1:p.Pro420Arg
NM_172108.5:c.1247+4516C>G	NP_742106.1:n.1247+4516C>G
NM_001382235.1:c.1247+4516C>G	NP_001369164.1:n.1247+4516C>G