Canonical Allele Identifier: CA409637132

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038190T>G (hg19) ; chr20:g.63406837T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406837T>G , CM000682.2:g.63406837T>G	GRCh38
NC_000020.10:g.62038190T>G , CM000682.1:g.62038190T>G	GRCh37
NC_000020.9:g.61508634T>G	NCBI36
NG_009004.1:g.70804A>C
NG_009004.2:g.70804A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2480A>C	ENSP00000516702.1:p.Gln827Pro
ENST00000359125.7:c.2426A>C MANE Select	ENSP00000352035.2:p.Gln809Pro
ENST00000637193.1:c.1823A>C	ENSP00000490734.1:p.Gln608Pro
ENST00000344462.8:c.2333A>C	ENSP00000339611.4:p.Gln778Pro
ENST00000357249.6:c.1994A>C	ENSP00000349789.3:p.Gln665Pro
ENST00000359125.6:c.2426A>C	ENSP00000352035.2:p.Gln809Pro
ENST00000360480.7:c.2342A>C	ENSP00000353668.3:p.Gln781Pro
ENST00000370224.5:c.2241+209A>C	ENSP00000359244.2:n.2241+209A>C
ENST00000625514.2:c.2205+209A>C	ENSP00000486040.1:n.2205+209A>C
ENST00000626839.2:c.2372A>C	ENSP00000486706.1:p.Gln791Pro
ENST00000629241.2:c.2133+209A>C	ENSP00000487142.1:n.2133+209A>C
ENST00000629676.2:c.1680-5994A>C	ENSP00000486194.1:n.1680-5994A>C
NM_004518.4:c.2342A>C	NP_004509.2:p.Gln781Pro
NM_172106.1:c.2372A>C	NP_742104.1:p.Gln791Pro
NM_172107.2:c.2426A>C	NP_742105.1:p.Gln809Pro
NM_172108.3:c.2333A>C	NP_742106.1:p.Gln778Pro
XM_006723787.1:c.2468A>C	XP_006723850.1:p.Gln823Pro
XM_011528807.1:c.2534A>C	XP_011527109.1:p.Gln845Pro
XM_011528808.1:c.2531A>C	XP_011527110.1:p.Gln844Pro
XM_011528809.1:c.2504A>C	XP_011527111.1:p.Gln835Pro
XM_011528810.1:c.2480A>C	XP_011527112.1:p.Gln827Pro
XM_011528811.1:c.2450A>C	XP_011527113.1:p.Gln817Pro
XM_011528812.1:c.2423A>C	XP_011527114.1:p.Gln808Pro
XM_011528813.1:c.2408A>C	XP_011527115.1:p.Gln803Pro
XM_011528814.1:c.2015A>C	XP_011527116.1:p.Gln672Pro
NM_004518.5:c.2342A>C	NP_004509.2:p.Gln781Pro
NM_172106.2:c.2372A>C	NP_742104.1:p.Gln791Pro
NM_172107.3:c.2426A>C	NP_742105.1:p.Gln809Pro
NM_172108.4:c.2333A>C	NP_742106.1:p.Gln778Pro
XM_011528810.2:c.2480A>C	XP_011527112.1:p.Gln827Pro
XM_011528811.2:c.2450A>C	XP_011527113.1:p.Gln817Pro
XM_017027841.2:c.2477A>C	XP_016883330.1:p.Gln826Pro
XM_017027842.2:c.2414A>C	XP_016883331.1:p.Gln805Pro
XM_017027843.1:c.2411A>C	XP_016883332.1:p.Gln804Pro
XM_017027844.2:c.2369A>C	XP_016883333.1:p.Gln790Pro
XM_017027845.1:c.1442A>C	XP_016883334.1:p.Gln481Pro
NM_004518.6:c.2342A>C	NP_004509.2:p.Gln781Pro
NM_172106.3:c.2372A>C	NP_742104.1:p.Gln791Pro
NM_172107.4:c.2426A>C MANE Select	NP_742105.1:p.Gln809Pro
NM_172108.5:c.2333A>C	NP_742106.1:p.Gln778Pro
NM_001382235.1:c.2480A>C	NP_001369164.1:p.Gln827Pro