Canonical Allele Identifier: CA317421760

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1044470501
• MyVariant Identifiers: chr20:g.62038204G>A (hg19) ; chr20:g.63406851G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406851G>A , CM000682.2:g.63406851G>A	GRCh38
NC_000020.10:g.62038204G>A , CM000682.1:g.62038204G>A	GRCh37
NC_000020.9:g.61508648G>A	NCBI36
NG_009004.1:g.70790C>T
NG_009004.2:g.70790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2466C>T	ENSP00000516702.1:p.Gly822=
ENST00000359125.7:c.2412C>T MANE Select	ENSP00000352035.2:p.Gly804=
ENST00000637193.1:c.1809C>T	ENSP00000490734.1:p.Gly603=
ENST00000344462.8:c.2319C>T	ENSP00000339611.4:p.Gly773=
ENST00000357249.6:c.1980C>T	ENSP00000349789.3:p.Gly660=
ENST00000359125.6:c.2412C>T	ENSP00000352035.2:p.Gly804=
ENST00000360480.7:c.2328C>T	ENSP00000353668.3:p.Gly776=
ENST00000370224.5:c.2241+195C>T	ENSP00000359244.2:n.2241+195C>T
ENST00000625514.2:c.2205+195C>T	ENSP00000486040.1:n.2205+195C>T
ENST00000626839.2:c.2358C>T	ENSP00000486706.1:p.Gly786=
ENST00000629241.2:c.2133+195C>T	ENSP00000487142.1:n.2133+195C>T
ENST00000629676.2:c.1680-6008C>T	ENSP00000486194.1:n.1680-6008C>T
NM_004518.4:c.2328C>T	NP_004509.2:p.Gly776=
NM_172106.1:c.2358C>T	NP_742104.1:p.Gly786=
NM_172107.2:c.2412C>T	NP_742105.1:p.Gly804=
NM_172108.3:c.2319C>T	NP_742106.1:p.Gly773=
XM_006723787.1:c.2454C>T	XP_006723850.1:p.Gly818=
XM_011528807.1:c.2520C>T	XP_011527109.1:p.Gly840=
XM_011528808.1:c.2517C>T	XP_011527110.1:p.Gly839=
XM_011528809.1:c.2490C>T	XP_011527111.1:p.Gly830=
XM_011528810.1:c.2466C>T	XP_011527112.1:p.Gly822=
XM_011528811.1:c.2436C>T	XP_011527113.1:p.Gly812=
XM_011528812.1:c.2409C>T	XP_011527114.1:p.Gly803=
XM_011528813.1:c.2394C>T	XP_011527115.1:p.Gly798=
XM_011528814.1:c.2001C>T	XP_011527116.1:p.Gly667=
NM_004518.5:c.2328C>T	NP_004509.2:p.Gly776=
NM_172106.2:c.2358C>T	NP_742104.1:p.Gly786=
NM_172107.3:c.2412C>T	NP_742105.1:p.Gly804=
NM_172108.4:c.2319C>T	NP_742106.1:p.Gly773=
XM_011528810.2:c.2466C>T	XP_011527112.1:p.Gly822=
XM_011528811.2:c.2436C>T	XP_011527113.1:p.Gly812=
XM_017027841.2:c.2463C>T	XP_016883330.1:p.Gly821=
XM_017027842.2:c.2400C>T	XP_016883331.1:p.Gly800=
XM_017027843.1:c.2397C>T	XP_016883332.1:p.Gly799=
XM_017027844.2:c.2355C>T	XP_016883333.1:p.Gly785=
XM_017027845.1:c.1428C>T	XP_016883334.1:p.Gly476=
NM_004518.6:c.2328C>T	NP_004509.2:p.Gly776=
NM_172106.3:c.2358C>T	NP_742104.1:p.Gly786=
NM_172107.4:c.2412C>T MANE Select	NP_742105.1:p.Gly804=
NM_172108.5:c.2319C>T	NP_742106.1:p.Gly773=
NM_001382235.1:c.2466C>T	NP_001369164.1:p.Gly822=