Canonical Allele Identifier: CA409639603

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038722A>T (hg19) ; chr20:g.63407369A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407369A>T , CM000682.2:g.63407369A>T	GRCh38
NC_000020.10:g.62038722A>T , CM000682.1:g.62038722A>T	GRCh37
NC_000020.9:g.61509166A>T	NCBI36
NG_009004.1:g.70272T>A
NG_009004.2:g.70272T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1948T>A	ENSP00000516702.1:p.Ser650Thr
ENST00000359125.7:c.1894T>A MANE Select	ENSP00000352035.2:p.Ser632Thr
ENST00000637193.1:c.1291T>A	ENSP00000490734.1:p.Ser431Thr
ENST00000637338.1:n.51T>A
ENST00000344462.8:c.1801T>A	ENSP00000339611.4:p.Ser601Thr
ENST00000357249.6:c.1462T>A	ENSP00000349789.3:p.Ser488Thr
ENST00000359125.6:c.1894T>A	ENSP00000352035.2:p.Ser632Thr
ENST00000360480.7:c.1810T>A	ENSP00000353668.3:p.Ser604Thr
ENST00000370224.5:c.1918T>A	ENSP00000359244.2:p.Ser640Thr
ENST00000625514.2:c.1882T>A	ENSP00000486040.1:p.Ser628Thr
ENST00000626839.2:c.1840T>A	ENSP00000486706.1:p.Ser614Thr
ENST00000629241.2:c.1810T>A	ENSP00000487142.1:p.Ser604Thr
ENST00000629676.2:c.1679+6081T>A	ENSP00000486194.1:n.1679+6081T>A
NM_004518.4:c.1810T>A	NP_004509.2:p.Ser604Thr
NM_172106.1:c.1840T>A	NP_742104.1:p.Ser614Thr
NM_172107.2:c.1894T>A	NP_742105.1:p.Ser632Thr
NM_172108.3:c.1801T>A	NP_742106.1:p.Ser601Thr
XM_006723787.1:c.1936T>A	XP_006723850.1:p.Ser646Thr
XM_011528807.1:c.2002T>A	XP_011527109.1:p.Ser668Thr
XM_011528808.1:c.1999T>A	XP_011527110.1:p.Ser667Thr
XM_011528809.1:c.1972T>A	XP_011527111.1:p.Ser658Thr
XM_011528810.1:c.1948T>A	XP_011527112.1:p.Ser650Thr
XM_011528811.1:c.1918T>A	XP_011527113.1:p.Ser640Thr
XM_011528812.1:c.1891T>A	XP_011527114.1:p.Ser631Thr
XM_011528813.1:c.1876T>A	XP_011527115.1:p.Ser626Thr
XM_011528814.1:c.1483T>A	XP_011527116.1:p.Ser495Thr
NM_004518.5:c.1810T>A	NP_004509.2:p.Ser604Thr
NM_172106.2:c.1840T>A	NP_742104.1:p.Ser614Thr
NM_172107.3:c.1894T>A	NP_742105.1:p.Ser632Thr
NM_172108.4:c.1801T>A	NP_742106.1:p.Ser601Thr
XM_011528810.2:c.1948T>A	XP_011527112.1:p.Ser650Thr
XM_011528811.2:c.1918T>A	XP_011527113.1:p.Ser640Thr
XM_017027841.2:c.1945T>A	XP_016883330.1:p.Ser649Thr
XM_017027842.2:c.1882T>A	XP_016883331.1:p.Ser628Thr
XM_017027843.1:c.1879T>A	XP_016883332.1:p.Ser627Thr
XM_017027844.2:c.1837T>A	XP_016883333.1:p.Ser613Thr
XM_017027845.1:c.910T>A	XP_016883334.1:p.Ser304Thr
NM_004518.6:c.1810T>A	NP_004509.2:p.Ser604Thr
NM_172106.3:c.1840T>A	NP_742104.1:p.Ser614Thr
NM_172107.4:c.1894T>A MANE Select	NP_742105.1:p.Ser632Thr
NM_172108.5:c.1801T>A	NP_742106.1:p.Ser601Thr
NM_001382235.1:c.1948T>A	NP_001369164.1:p.Ser650Thr