Canonical Allele Identifier: CA409637067

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038176G>C (hg19) ; chr20:g.63406823G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406823G>C , CM000682.2:g.63406823G>C	GRCh38
NC_000020.10:g.62038176G>C , CM000682.1:g.62038176G>C	GRCh37
NC_000020.9:g.61508620G>C	NCBI36
NG_009004.1:g.70818C>G
NG_009004.2:g.70818C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2494C>G	ENSP00000516702.1:p.Leu832Val
ENST00000359125.7:c.2440C>G MANE Select	ENSP00000352035.2:p.Leu814Val
ENST00000637193.1:c.1837C>G	ENSP00000490734.1:p.Leu613Val
ENST00000344462.8:c.2347C>G	ENSP00000339611.4:p.Leu783Val
ENST00000357249.6:c.2008C>G	ENSP00000349789.3:p.Leu670Val
ENST00000359125.6:c.2440C>G	ENSP00000352035.2:p.Leu814Val
ENST00000360480.7:c.2356C>G	ENSP00000353668.3:p.Leu786Val
ENST00000370224.5:c.2241+223C>G	ENSP00000359244.2:n.2241+223C>G
ENST00000625514.2:c.2205+223C>G	ENSP00000486040.1:n.2205+223C>G
ENST00000626839.2:c.2386C>G	ENSP00000486706.1:p.Leu796Val
ENST00000629241.2:c.2133+223C>G	ENSP00000487142.1:n.2133+223C>G
ENST00000629676.2:c.1680-5980C>G	ENSP00000486194.1:n.1680-5980C>G
NM_004518.4:c.2356C>G	NP_004509.2:p.Leu786Val
NM_172106.1:c.2386C>G	NP_742104.1:p.Leu796Val
NM_172107.2:c.2440C>G	NP_742105.1:p.Leu814Val
NM_172108.3:c.2347C>G	NP_742106.1:p.Leu783Val
XM_006723787.1:c.2482C>G	XP_006723850.1:p.Leu828Val
XM_011528807.1:c.2548C>G	XP_011527109.1:p.Leu850Val
XM_011528808.1:c.2545C>G	XP_011527110.1:p.Leu849Val
XM_011528809.1:c.2518C>G	XP_011527111.1:p.Leu840Val
XM_011528810.1:c.2494C>G	XP_011527112.1:p.Leu832Val
XM_011528811.1:c.2464C>G	XP_011527113.1:p.Leu822Val
XM_011528812.1:c.2437C>G	XP_011527114.1:p.Leu813Val
XM_011528813.1:c.2422C>G	XP_011527115.1:p.Leu808Val
XM_011528814.1:c.2029C>G	XP_011527116.1:p.Leu677Val
NM_004518.5:c.2356C>G	NP_004509.2:p.Leu786Val
NM_172106.2:c.2386C>G	NP_742104.1:p.Leu796Val
NM_172107.3:c.2440C>G	NP_742105.1:p.Leu814Val
NM_172108.4:c.2347C>G	NP_742106.1:p.Leu783Val
XM_011528810.2:c.2494C>G	XP_011527112.1:p.Leu832Val
XM_011528811.2:c.2464C>G	XP_011527113.1:p.Leu822Val
XM_017027841.2:c.2491C>G	XP_016883330.1:p.Leu831Val
XM_017027842.2:c.2428C>G	XP_016883331.1:p.Leu810Val
XM_017027843.1:c.2425C>G	XP_016883332.1:p.Leu809Val
XM_017027844.2:c.2383C>G	XP_016883333.1:p.Leu795Val
XM_017027845.1:c.1456C>G	XP_016883334.1:p.Leu486Val
NM_004518.6:c.2356C>G	NP_004509.2:p.Leu786Val
NM_172106.3:c.2386C>G	NP_742104.1:p.Leu796Val
NM_172107.4:c.2440C>G MANE Select	NP_742105.1:p.Leu814Val
NM_172108.5:c.2347C>G	NP_742106.1:p.Leu783Val
NM_001382235.1:c.2494C>G	NP_001369164.1:p.Leu832Val