Canonical Allele Identifier: CA409637547

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038260T>A (hg19) ; chr20:g.63406907T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406907T>A , CM000682.2:g.63406907T>A	GRCh38
NC_000020.10:g.62038260T>A , CM000682.1:g.62038260T>A	GRCh37
NC_000020.9:g.61508704T>A	NCBI36
NG_009004.1:g.70734A>T
NG_009004.2:g.70734A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2410A>T	ENSP00000516702.1:p.Thr804Ser
ENST00000359125.7:c.2356A>T MANE Select	ENSP00000352035.2:p.Thr786Ser
ENST00000637193.1:c.1753A>T	ENSP00000490734.1:p.Thr585Ser
ENST00000344462.8:c.2263A>T	ENSP00000339611.4:p.Thr755Ser
ENST00000357249.6:c.1924A>T	ENSP00000349789.3:p.Thr642Ser
ENST00000359125.6:c.2356A>T	ENSP00000352035.2:p.Thr786Ser
ENST00000360480.7:c.2272A>T	ENSP00000353668.3:p.Thr758Ser
ENST00000370224.5:c.2241+139A>T	ENSP00000359244.2:n.2241+139A>T
ENST00000625514.2:c.2205+139A>T	ENSP00000486040.1:n.2205+139A>T
ENST00000626839.2:c.2302A>T	ENSP00000486706.1:p.Thr768Ser
ENST00000629241.2:c.2133+139A>T	ENSP00000487142.1:n.2133+139A>T
ENST00000629676.2:c.1680-6064A>T	ENSP00000486194.1:n.1680-6064A>T
NM_004518.4:c.2272A>T	NP_004509.2:p.Thr758Ser
NM_172106.1:c.2302A>T	NP_742104.1:p.Thr768Ser
NM_172107.2:c.2356A>T	NP_742105.1:p.Thr786Ser
NM_172108.3:c.2263A>T	NP_742106.1:p.Thr755Ser
XM_006723787.1:c.2398A>T	XP_006723850.1:p.Thr800Ser
XM_011528807.1:c.2464A>T	XP_011527109.1:p.Thr822Ser
XM_011528808.1:c.2461A>T	XP_011527110.1:p.Thr821Ser
XM_011528809.1:c.2434A>T	XP_011527111.1:p.Thr812Ser
XM_011528810.1:c.2410A>T	XP_011527112.1:p.Thr804Ser
XM_011528811.1:c.2380A>T	XP_011527113.1:p.Thr794Ser
XM_011528812.1:c.2353A>T	XP_011527114.1:p.Thr785Ser
XM_011528813.1:c.2338A>T	XP_011527115.1:p.Thr780Ser
XM_011528814.1:c.1945A>T	XP_011527116.1:p.Thr649Ser
NM_004518.5:c.2272A>T	NP_004509.2:p.Thr758Ser
NM_172106.2:c.2302A>T	NP_742104.1:p.Thr768Ser
NM_172107.3:c.2356A>T	NP_742105.1:p.Thr786Ser
NM_172108.4:c.2263A>T	NP_742106.1:p.Thr755Ser
XM_011528810.2:c.2410A>T	XP_011527112.1:p.Thr804Ser
XM_011528811.2:c.2380A>T	XP_011527113.1:p.Thr794Ser
XM_017027841.2:c.2407A>T	XP_016883330.1:p.Thr803Ser
XM_017027842.2:c.2344A>T	XP_016883331.1:p.Thr782Ser
XM_017027843.1:c.2341A>T	XP_016883332.1:p.Thr781Ser
XM_017027844.2:c.2299A>T	XP_016883333.1:p.Thr767Ser
XM_017027845.1:c.1372A>T	XP_016883334.1:p.Thr458Ser
NM_004518.6:c.2272A>T	NP_004509.2:p.Thr758Ser
NM_172106.3:c.2302A>T	NP_742104.1:p.Thr768Ser
NM_172107.4:c.2356A>T MANE Select	NP_742105.1:p.Thr786Ser
NM_172108.5:c.2263A>T	NP_742106.1:p.Thr755Ser
NM_001382235.1:c.2410A>T	NP_001369164.1:p.Thr804Ser