Canonical Allele Identifier: CA409639619

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038725A>T (hg19) ; chr20:g.63407372A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407372A>T , CM000682.2:g.63407372A>T	GRCh38
NC_000020.10:g.62038725A>T , CM000682.1:g.62038725A>T	GRCh37
NC_000020.9:g.61509169A>T	NCBI36
NG_009004.1:g.70269T>A
NG_009004.2:g.70269T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1945T>A	ENSP00000516702.1:p.Leu649Met
ENST00000359125.7:c.1891T>A MANE Select	ENSP00000352035.2:p.Leu631Met
ENST00000637193.1:c.1288T>A	ENSP00000490734.1:p.Leu430Met
ENST00000637338.1:n.48T>A
ENST00000344462.8:c.1798T>A	ENSP00000339611.4:p.Leu600Met
ENST00000357249.6:c.1459T>A	ENSP00000349789.3:p.Leu487Met
ENST00000359125.6:c.1891T>A	ENSP00000352035.2:p.Leu631Met
ENST00000360480.7:c.1807T>A	ENSP00000353668.3:p.Leu603Met
ENST00000370224.5:c.1915T>A	ENSP00000359244.2:p.Leu639Met
ENST00000625514.2:c.1879T>A	ENSP00000486040.1:p.Leu627Met
ENST00000626839.2:c.1837T>A	ENSP00000486706.1:p.Leu613Met
ENST00000629241.2:c.1807T>A	ENSP00000487142.1:p.Leu603Met
ENST00000629676.2:c.1679+6078T>A	ENSP00000486194.1:n.1679+6078T>A
NM_004518.4:c.1807T>A	NP_004509.2:p.Leu603Met
NM_172106.1:c.1837T>A	NP_742104.1:p.Leu613Met
NM_172107.2:c.1891T>A	NP_742105.1:p.Leu631Met
NM_172108.3:c.1798T>A	NP_742106.1:p.Leu600Met
XM_006723787.1:c.1933T>A	XP_006723850.1:p.Leu645Met
XM_011528807.1:c.1999T>A	XP_011527109.1:p.Leu667Met
XM_011528808.1:c.1996T>A	XP_011527110.1:p.Leu666Met
XM_011528809.1:c.1969T>A	XP_011527111.1:p.Leu657Met
XM_011528810.1:c.1945T>A	XP_011527112.1:p.Leu649Met
XM_011528811.1:c.1915T>A	XP_011527113.1:p.Leu639Met
XM_011528812.1:c.1888T>A	XP_011527114.1:p.Leu630Met
XM_011528813.1:c.1873T>A	XP_011527115.1:p.Leu625Met
XM_011528814.1:c.1480T>A	XP_011527116.1:p.Leu494Met
NM_004518.5:c.1807T>A	NP_004509.2:p.Leu603Met
NM_172106.2:c.1837T>A	NP_742104.1:p.Leu613Met
NM_172107.3:c.1891T>A	NP_742105.1:p.Leu631Met
NM_172108.4:c.1798T>A	NP_742106.1:p.Leu600Met
XM_011528810.2:c.1945T>A	XP_011527112.1:p.Leu649Met
XM_011528811.2:c.1915T>A	XP_011527113.1:p.Leu639Met
XM_017027841.2:c.1942T>A	XP_016883330.1:p.Leu648Met
XM_017027842.2:c.1879T>A	XP_016883331.1:p.Leu627Met
XM_017027843.1:c.1876T>A	XP_016883332.1:p.Leu626Met
XM_017027844.2:c.1834T>A	XP_016883333.1:p.Leu612Met
XM_017027845.1:c.907T>A	XP_016883334.1:p.Leu303Met
NM_004518.6:c.1807T>A	NP_004509.2:p.Leu603Met
NM_172106.3:c.1837T>A	NP_742104.1:p.Leu613Met
NM_172107.4:c.1891T>A MANE Select	NP_742105.1:p.Leu631Met
NM_172108.5:c.1798T>A	NP_742106.1:p.Leu600Met
NM_001382235.1:c.1945T>A	NP_001369164.1:p.Leu649Met