Canonical Allele Identifier: CA409639037

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407183-T-G
• MyVariant Identifiers: chr20:g.62038536T>G (hg19) ; chr20:g.63407183T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407183T>G , CM000682.2:g.63407183T>G	GRCh38
NC_000020.10:g.62038536T>G , CM000682.1:g.62038536T>G	GRCh37
NC_000020.9:g.61508980T>G	NCBI36
NG_009004.1:g.70458A>C
NG_009004.2:g.70458A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2134A>C	ENSP00000516702.1:p.Ser712Arg
ENST00000359125.7:c.2080A>C MANE Select	ENSP00000352035.2:p.Ser694Arg
ENST00000637193.1:c.1477A>C	ENSP00000490734.1:p.Ser493Arg
ENST00000344462.8:c.1987A>C	ENSP00000339611.4:p.Ser663Arg
ENST00000357249.6:c.1648A>C	ENSP00000349789.3:p.Ser550Arg
ENST00000359125.6:c.2080A>C	ENSP00000352035.2:p.Ser694Arg
ENST00000360480.7:c.1996A>C	ENSP00000353668.3:p.Ser666Arg
ENST00000370224.5:c.2104A>C	ENSP00000359244.2:p.Ser702Arg
ENST00000625514.2:c.2068A>C	ENSP00000486040.1:p.Ser690Arg
ENST00000626839.2:c.2026A>C	ENSP00000486706.1:p.Ser676Arg
ENST00000629241.2:c.1996A>C	ENSP00000487142.1:p.Ser666Arg
ENST00000629676.2:c.1679+6267A>C	ENSP00000486194.1:n.1679+6267A>C
NM_004518.4:c.1996A>C	NP_004509.2:p.Ser666Arg
NM_172106.1:c.2026A>C	NP_742104.1:p.Ser676Arg
NM_172107.2:c.2080A>C	NP_742105.1:p.Ser694Arg
NM_172108.3:c.1987A>C	NP_742106.1:p.Ser663Arg
XM_006723787.1:c.2122A>C	XP_006723850.1:p.Ser708Arg
XM_011528807.1:c.2188A>C	XP_011527109.1:p.Ser730Arg
XM_011528808.1:c.2185A>C	XP_011527110.1:p.Ser729Arg
XM_011528809.1:c.2158A>C	XP_011527111.1:p.Ser720Arg
XM_011528810.1:c.2134A>C	XP_011527112.1:p.Ser712Arg
XM_011528811.1:c.2104A>C	XP_011527113.1:p.Ser702Arg
XM_011528812.1:c.2077A>C	XP_011527114.1:p.Ser693Arg
XM_011528813.1:c.2062A>C	XP_011527115.1:p.Ser688Arg
XM_011528814.1:c.1669A>C	XP_011527116.1:p.Ser557Arg
NM_004518.5:c.1996A>C	NP_004509.2:p.Ser666Arg
NM_172106.2:c.2026A>C	NP_742104.1:p.Ser676Arg
NM_172107.3:c.2080A>C	NP_742105.1:p.Ser694Arg
NM_172108.4:c.1987A>C	NP_742106.1:p.Ser663Arg
XM_011528810.2:c.2134A>C	XP_011527112.1:p.Ser712Arg
XM_011528811.2:c.2104A>C	XP_011527113.1:p.Ser702Arg
XM_017027841.2:c.2131A>C	XP_016883330.1:p.Ser711Arg
XM_017027842.2:c.2068A>C	XP_016883331.1:p.Ser690Arg
XM_017027843.1:c.2065A>C	XP_016883332.1:p.Ser689Arg
XM_017027844.2:c.2023A>C	XP_016883333.1:p.Ser675Arg
XM_017027845.1:c.1096A>C	XP_016883334.1:p.Ser366Arg
NM_004518.6:c.1996A>C	NP_004509.2:p.Ser666Arg
NM_172106.3:c.2026A>C	NP_742104.1:p.Ser676Arg
NM_172107.4:c.2080A>C MANE Select	NP_742105.1:p.Ser694Arg
NM_172108.5:c.1987A>C	NP_742106.1:p.Ser663Arg
NM_001382235.1:c.2134A>C	NP_001369164.1:p.Ser712Arg