Canonical Allele Identifier: CA409637807

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406946-C-A
• MyVariant Identifiers: chr20:g.62038299C>A (hg19) ; chr20:g.63406946C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2371G>T	ENSP00000516702.1:p.Gly791Cys
ENST00000359125.7:c.2317G>T MANE Select	ENSP00000352035.2:p.Gly773Cys
ENST00000637193.1:c.1714G>T	ENSP00000490734.1:p.Gly572Cys
ENST00000344462.8:c.2224G>T	ENSP00000339611.4:p.Gly742Cys
ENST00000357249.6:c.1885G>T	ENSP00000349789.3:p.Gly629Cys
ENST00000359125.6:c.2317G>T	ENSP00000352035.2:p.Gly773Cys
ENST00000360480.7:c.2233G>T	ENSP00000353668.3:p.Gly745Cys
ENST00000370224.5:c.2241+100G>T	ENSP00000359244.2:n.2241+100G>T
ENST00000625514.2:c.2205+100G>T	ENSP00000486040.1:n.2205+100G>T
ENST00000626839.2:c.2263G>T	ENSP00000486706.1:p.Gly755Cys
ENST00000629241.2:c.2133+100G>T	ENSP00000487142.1:n.2133+100G>T
ENST00000629676.2:c.1680-6103G>T	ENSP00000486194.1:n.1680-6103G>T
NM_004518.4:c.2233G>T	NP_004509.2:p.Gly745Cys
NM_172106.1:c.2263G>T	NP_742104.1:p.Gly755Cys
NM_172107.2:c.2317G>T	NP_742105.1:p.Gly773Cys
NM_172108.3:c.2224G>T	NP_742106.1:p.Gly742Cys
XM_006723787.1:c.2359G>T	XP_006723850.1:p.Gly787Cys
XM_011528807.1:c.2425G>T	XP_011527109.1:p.Gly809Cys
XM_011528808.1:c.2422G>T	XP_011527110.1:p.Gly808Cys
XM_011528809.1:c.2395G>T	XP_011527111.1:p.Gly799Cys
XM_011528810.1:c.2371G>T	XP_011527112.1:p.Gly791Cys
XM_011528811.1:c.2341G>T	XP_011527113.1:p.Gly781Cys
XM_011528812.1:c.2314G>T	XP_011527114.1:p.Gly772Cys
XM_011528813.1:c.2299G>T	XP_011527115.1:p.Gly767Cys
XM_011528814.1:c.1906G>T	XP_011527116.1:p.Gly636Cys
NM_004518.5:c.2233G>T	NP_004509.2:p.Gly745Cys
NM_172106.2:c.2263G>T	NP_742104.1:p.Gly755Cys
NM_172107.3:c.2317G>T	NP_742105.1:p.Gly773Cys
NM_172108.4:c.2224G>T	NP_742106.1:p.Gly742Cys
XM_011528810.2:c.2371G>T	XP_011527112.1:p.Gly791Cys
XM_011528811.2:c.2341G>T	XP_011527113.1:p.Gly781Cys
XM_017027841.2:c.2368G>T	XP_016883330.1:p.Gly790Cys
XM_017027842.2:c.2305G>T	XP_016883331.1:p.Gly769Cys
XM_017027843.1:c.2302G>T	XP_016883332.1:p.Gly768Cys
XM_017027844.2:c.2260G>T	XP_016883333.1:p.Gly754Cys
XM_017027845.1:c.1333G>T	XP_016883334.1:p.Gly445Cys
NM_004518.6:c.2233G>T	NP_004509.2:p.Gly745Cys
NM_172106.3:c.2263G>T	NP_742104.1:p.Gly755Cys
NM_172107.4:c.2317G>T MANE Select	NP_742105.1:p.Gly773Cys
NM_172108.5:c.2224G>T	NP_742106.1:p.Gly742Cys
NM_001382235.1:c.2371G>T	NP_001369164.1:p.Gly791Cys