Canonical Allele Identifier: CA9958147

Gene: KCNQ2

Linked Data

• dbSNP Id: rs754279476
• ExAC: 20:62038501 C / G
• gnomAD v2: 20-62038501-C-G
• gnomAD v4: 20-63407148-C-G
• MyVariant Identifiers: chr20:g.62038501C>G (hg19) ; chr20:g.63407148C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407148C>G , CM000682.2:g.63407148C>G	GRCh38
NC_000020.10:g.62038501C>G , CM000682.1:g.62038501C>G	GRCh37
NC_000020.9:g.61508945C>G	NCBI36
NG_009004.1:g.70493G>C
NG_009004.2:g.70493G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2169G>C	ENSP00000516702.1:p.Pro723=
ENST00000359125.7:c.2115G>C MANE Select	ENSP00000352035.2:p.Pro705=
ENST00000637193.1:c.1512G>C	ENSP00000490734.1:p.Pro504=
ENST00000344462.8:c.2022G>C	ENSP00000339611.4:p.Pro674=
ENST00000357249.6:c.1683G>C	ENSP00000349789.3:p.Pro561=
ENST00000359125.6:c.2115G>C	ENSP00000352035.2:p.Pro705=
ENST00000360480.7:c.2031G>C	ENSP00000353668.3:p.Pro677=
ENST00000370224.5:c.2139G>C	ENSP00000359244.2:p.Pro713=
ENST00000625514.2:c.2103G>C	ENSP00000486040.1:p.Pro701=
ENST00000626839.2:c.2061G>C	ENSP00000486706.1:p.Pro687=
ENST00000629241.2:c.2031G>C	ENSP00000487142.1:p.Pro677=
ENST00000629676.2:c.1679+6302G>C	ENSP00000486194.1:n.1679+6302G>C
NM_004518.4:c.2031G>C	NP_004509.2:p.Pro677=
NM_172106.1:c.2061G>C	NP_742104.1:p.Pro687=
NM_172107.2:c.2115G>C	NP_742105.1:p.Pro705=
NM_172108.3:c.2022G>C	NP_742106.1:p.Pro674=
XM_006723787.1:c.2157G>C	XP_006723850.1:p.Pro719=
XM_011528807.1:c.2223G>C	XP_011527109.1:p.Pro741=
XM_011528808.1:c.2220G>C	XP_011527110.1:p.Pro740=
XM_011528809.1:c.2193G>C	XP_011527111.1:p.Pro731=
XM_011528810.1:c.2169G>C	XP_011527112.1:p.Pro723=
XM_011528811.1:c.2139G>C	XP_011527113.1:p.Pro713=
XM_011528812.1:c.2112G>C	XP_011527114.1:p.Pro704=
XM_011528813.1:c.2097G>C	XP_011527115.1:p.Pro699=
XM_011528814.1:c.1704G>C	XP_011527116.1:p.Pro568=
NM_004518.5:c.2031G>C	NP_004509.2:p.Pro677=
NM_172106.2:c.2061G>C	NP_742104.1:p.Pro687=
NM_172107.3:c.2115G>C	NP_742105.1:p.Pro705=
NM_172108.4:c.2022G>C	NP_742106.1:p.Pro674=
XM_011528810.2:c.2169G>C	XP_011527112.1:p.Pro723=
XM_011528811.2:c.2139G>C	XP_011527113.1:p.Pro713=
XM_017027841.2:c.2166G>C	XP_016883330.1:p.Pro722=
XM_017027842.2:c.2103G>C	XP_016883331.1:p.Pro701=
XM_017027843.1:c.2100G>C	XP_016883332.1:p.Pro700=
XM_017027844.2:c.2058G>C	XP_016883333.1:p.Pro686=
XM_017027845.1:c.1131G>C	XP_016883334.1:p.Pro377=
NM_004518.6:c.2031G>C	NP_004509.2:p.Pro677=
NM_172106.3:c.2061G>C	NP_742104.1:p.Pro687=
NM_172107.4:c.2115G>C MANE Select	NP_742105.1:p.Pro705=
NM_172108.5:c.2022G>C	NP_742106.1:p.Pro674=
NM_001382235.1:c.2169G>C	NP_001369164.1:p.Pro723=