Canonical Allele Identifier: CA409638413

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038392T>G (hg19) ; chr20:g.63407039T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407039T>G , CM000682.2:g.63407039T>G	GRCh38
NC_000020.10:g.62038392T>G , CM000682.1:g.62038392T>G	GRCh37
NC_000020.9:g.61508836T>G	NCBI36
NG_009004.1:g.70602A>C
NG_009004.2:g.70602A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2278A>C	ENSP00000516702.1:p.Ile760Leu
ENST00000359125.7:c.2224A>C MANE Select	ENSP00000352035.2:p.Ile742Leu
ENST00000637193.1:c.1621A>C	ENSP00000490734.1:p.Ile541Leu
ENST00000344462.8:c.2131A>C	ENSP00000339611.4:p.Ile711Leu
ENST00000357249.6:c.1792A>C	ENSP00000349789.3:p.Ile598Leu
ENST00000359125.6:c.2224A>C	ENSP00000352035.2:p.Ile742Leu
ENST00000360480.7:c.2140A>C	ENSP00000353668.3:p.Ile714Leu
ENST00000370224.5:c.2241+7A>C	ENSP00000359244.2:n.2241+7A>C
ENST00000625514.2:c.2205+7A>C	ENSP00000486040.1:n.2205+7A>C
ENST00000626839.2:c.2170A>C	ENSP00000486706.1:p.Ile724Leu
ENST00000629241.2:c.2133+7A>C	ENSP00000487142.1:n.2133+7A>C
ENST00000629676.2:c.1680-6196A>C	ENSP00000486194.1:n.1680-6196A>C
NM_004518.4:c.2140A>C	NP_004509.2:p.Ile714Leu
NM_172106.1:c.2170A>C	NP_742104.1:p.Ile724Leu
NM_172107.2:c.2224A>C	NP_742105.1:p.Ile742Leu
NM_172108.3:c.2131A>C	NP_742106.1:p.Ile711Leu
XM_006723787.1:c.2266A>C	XP_006723850.1:p.Ile756Leu
XM_011528807.1:c.2332A>C	XP_011527109.1:p.Ile778Leu
XM_011528808.1:c.2329A>C	XP_011527110.1:p.Ile777Leu
XM_011528809.1:c.2302A>C	XP_011527111.1:p.Ile768Leu
XM_011528810.1:c.2278A>C	XP_011527112.1:p.Ile760Leu
XM_011528811.1:c.2248A>C	XP_011527113.1:p.Ile750Leu
XM_011528812.1:c.2221A>C	XP_011527114.1:p.Ile741Leu
XM_011528813.1:c.2206A>C	XP_011527115.1:p.Ile736Leu
XM_011528814.1:c.1813A>C	XP_011527116.1:p.Ile605Leu
NM_004518.5:c.2140A>C	NP_004509.2:p.Ile714Leu
NM_172106.2:c.2170A>C	NP_742104.1:p.Ile724Leu
NM_172107.3:c.2224A>C	NP_742105.1:p.Ile742Leu
NM_172108.4:c.2131A>C	NP_742106.1:p.Ile711Leu
XM_011528810.2:c.2278A>C	XP_011527112.1:p.Ile760Leu
XM_011528811.2:c.2248A>C	XP_011527113.1:p.Ile750Leu
XM_017027841.2:c.2275A>C	XP_016883330.1:p.Ile759Leu
XM_017027842.2:c.2212A>C	XP_016883331.1:p.Ile738Leu
XM_017027843.1:c.2209A>C	XP_016883332.1:p.Ile737Leu
XM_017027844.2:c.2167A>C	XP_016883333.1:p.Ile723Leu
XM_017027845.1:c.1240A>C	XP_016883334.1:p.Ile414Leu
NM_004518.6:c.2140A>C	NP_004509.2:p.Ile714Leu
NM_172106.3:c.2170A>C	NP_742104.1:p.Ile724Leu
NM_172107.4:c.2224A>C MANE Select	NP_742105.1:p.Ile742Leu
NM_172108.5:c.2131A>C	NP_742106.1:p.Ile711Leu
NM_001382235.1:c.2278A>C	NP_001369164.1:p.Ile760Leu