Canonical Allele Identifier: CA409646672

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63415031-G-T
• MyVariant Identifiers: chr20:g.62046384G>T (hg19) ; chr20:g.63415031G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415031G>T , CM000682.2:g.63415031G>T	GRCh38
NC_000020.10:g.62046384G>T , CM000682.1:g.62046384G>T	GRCh37
NC_000020.9:g.61516828G>T	NCBI36
NG_009004.1:g.62610C>A
NG_009004.2:g.62610C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1343C>A	ENSP00000516702.1:p.Ser448Ter
ENST00000359125.7:c.1397C>A MANE Select	ENSP00000352035.2:p.Ser466Ter
ENST00000637193.1:c.794C>A	ENSP00000490734.1:p.Ser265Ter
ENST00000344462.8:c.1307C>A	ENSP00000339611.4:p.Ser436Ter
ENST00000357249.6:c.965C>A	ENSP00000349789.3:p.Ser322Ter
ENST00000359125.6:c.1397C>A	ENSP00000352035.2:p.Ser466Ter
ENST00000360480.7:c.1313C>A	ENSP00000353668.3:p.Ser438Ter
ENST00000370224.5:c.1313C>A	ENSP00000359244.2:p.Ser438Ter
ENST00000625514.2:c.1277C>A	ENSP00000486040.1:p.Ser426Ter
ENST00000626839.2:c.1343C>A	ENSP00000486706.1:p.Ser448Ter
ENST00000627221.2:c.457C>A
ENST00000629241.2:c.1313C>A	ENSP00000487142.1:p.Ser438Ter
ENST00000629318.1:c.5C>A	ENSP00000487384.1:p.Ser2Ter
ENST00000629676.2:c.1313C>A	ENSP00000486194.1:p.Ser438Ter
NM_004518.4:c.1313C>A	NP_004509.2:p.Ser438Ter
NM_172106.1:c.1343C>A	NP_742104.1:p.Ser448Ter
NM_172107.2:c.1397C>A	NP_742105.1:p.Ser466Ter
NM_172108.3:c.1307C>A	NP_742106.1:p.Ser436Ter
XM_006723787.1:c.1397C>A	XP_006723850.1:p.Ser466Ter
XM_011528807.1:c.1397C>A	XP_011527109.1:p.Ser466Ter
XM_011528808.1:c.1397C>A	XP_011527110.1:p.Ser466Ter
XM_011528809.1:c.1367C>A	XP_011527111.1:p.Ser456Ter
XM_011528810.1:c.1343C>A	XP_011527112.1:p.Ser448Ter
XM_011528811.1:c.1313C>A	XP_011527113.1:p.Ser438Ter
XM_011528812.1:c.1397C>A	XP_011527114.1:p.Ser466Ter
XM_011528813.1:c.1271C>A	XP_011527115.1:p.Ser424Ter
XM_011528814.1:c.878C>A	XP_011527116.1:p.Ser293Ter
XM_011528815.1:c.1397C>A	XP_011527117.1:p.Ser466Ter
NM_004518.5:c.1313C>A	NP_004509.2:p.Ser438Ter
NM_172106.2:c.1343C>A	NP_742104.1:p.Ser448Ter
NM_172107.3:c.1397C>A	NP_742105.1:p.Ser466Ter
NM_172108.4:c.1307C>A	NP_742106.1:p.Ser436Ter
XM_011528810.2:c.1343C>A	XP_011527112.1:p.Ser448Ter
XM_011528811.2:c.1313C>A	XP_011527113.1:p.Ser438Ter
XM_017027841.2:c.1343C>A	XP_016883330.1:p.Ser448Ter
XM_017027842.2:c.1343C>A	XP_016883331.1:p.Ser448Ter
XM_017027843.1:c.1274C>A	XP_016883332.1:p.Ser425Ter
XM_017027844.2:c.1343C>A	XP_016883333.1:p.Ser448Ter
XM_017027845.1:c.305C>A	XP_016883334.1:p.Ser102Ter
NM_004518.6:c.1313C>A	NP_004509.2:p.Ser438Ter
NM_172106.3:c.1343C>A	NP_742104.1:p.Ser448Ter
NM_172107.4:c.1397C>A MANE Select	NP_742105.1:p.Ser466Ter
NM_172108.5:c.1307C>A	NP_742106.1:p.Ser436Ter
NM_001382235.1:c.1343C>A	NP_001369164.1:p.Ser448Ter