Canonical Allele Identifier: CA409637813

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1454354802
• gnomAD v2: 20-62038299-C-T
• gnomAD v4: 20-63406946-C-T
• MyVariant Identifiers: chr20:g.62038299C>T (hg19) ; chr20:g.63406946C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406946C>T , CM000682.2:g.63406946C>T	GRCh38
NC_000020.10:g.62038299C>T , CM000682.1:g.62038299C>T	GRCh37
NC_000020.9:g.61508743C>T	NCBI36
NG_009004.1:g.70695G>A
NG_009004.2:g.70695G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2371G>A	ENSP00000516702.1:p.Gly791Ser
ENST00000359125.7:c.2317G>A MANE Select	ENSP00000352035.2:p.Gly773Ser
ENST00000637193.1:c.1714G>A	ENSP00000490734.1:p.Gly572Ser
ENST00000344462.8:c.2224G>A	ENSP00000339611.4:p.Gly742Ser
ENST00000357249.6:c.1885G>A	ENSP00000349789.3:p.Gly629Ser
ENST00000359125.6:c.2317G>A	ENSP00000352035.2:p.Gly773Ser
ENST00000360480.7:c.2233G>A	ENSP00000353668.3:p.Gly745Ser
ENST00000370224.5:c.2241+100G>A	ENSP00000359244.2:n.2241+100G>A
ENST00000625514.2:c.2205+100G>A	ENSP00000486040.1:n.2205+100G>A
ENST00000626839.2:c.2263G>A	ENSP00000486706.1:p.Gly755Ser
ENST00000629241.2:c.2133+100G>A	ENSP00000487142.1:n.2133+100G>A
ENST00000629676.2:c.1680-6103G>A	ENSP00000486194.1:n.1680-6103G>A
NM_004518.4:c.2233G>A	NP_004509.2:p.Gly745Ser
NM_172106.1:c.2263G>A	NP_742104.1:p.Gly755Ser
NM_172107.2:c.2317G>A	NP_742105.1:p.Gly773Ser
NM_172108.3:c.2224G>A	NP_742106.1:p.Gly742Ser
XM_006723787.1:c.2359G>A	XP_006723850.1:p.Gly787Ser
XM_011528807.1:c.2425G>A	XP_011527109.1:p.Gly809Ser
XM_011528808.1:c.2422G>A	XP_011527110.1:p.Gly808Ser
XM_011528809.1:c.2395G>A	XP_011527111.1:p.Gly799Ser
XM_011528810.1:c.2371G>A	XP_011527112.1:p.Gly791Ser
XM_011528811.1:c.2341G>A	XP_011527113.1:p.Gly781Ser
XM_011528812.1:c.2314G>A	XP_011527114.1:p.Gly772Ser
XM_011528813.1:c.2299G>A	XP_011527115.1:p.Gly767Ser
XM_011528814.1:c.1906G>A	XP_011527116.1:p.Gly636Ser
NM_004518.5:c.2233G>A	NP_004509.2:p.Gly745Ser
NM_172106.2:c.2263G>A	NP_742104.1:p.Gly755Ser
NM_172107.3:c.2317G>A	NP_742105.1:p.Gly773Ser
NM_172108.4:c.2224G>A	NP_742106.1:p.Gly742Ser
XM_011528810.2:c.2371G>A	XP_011527112.1:p.Gly791Ser
XM_011528811.2:c.2341G>A	XP_011527113.1:p.Gly781Ser
XM_017027841.2:c.2368G>A	XP_016883330.1:p.Gly790Ser
XM_017027842.2:c.2305G>A	XP_016883331.1:p.Gly769Ser
XM_017027843.1:c.2302G>A	XP_016883332.1:p.Gly768Ser
XM_017027844.2:c.2260G>A	XP_016883333.1:p.Gly754Ser
XM_017027845.1:c.1333G>A	XP_016883334.1:p.Gly445Ser
NM_004518.6:c.2233G>A	NP_004509.2:p.Gly745Ser
NM_172106.3:c.2263G>A	NP_742104.1:p.Gly755Ser
NM_172107.4:c.2317G>A MANE Select	NP_742105.1:p.Gly773Ser
NM_172108.5:c.2224G>A	NP_742106.1:p.Gly742Ser
NM_001382235.1:c.2371G>A	NP_001369164.1:p.Gly791Ser