Canonical Allele Identifier: CA409639205

Gene: KCNQ2

Linked Data

• COSMIC: COSM4100348 ; COSM4100349 ; COSM4100350
• MyVariant Identifiers: chr20:g.62038613G>T (hg19) ; chr20:g.63407260G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407260G>T , CM000682.2:g.63407260G>T	GRCh38
NC_000020.10:g.62038613G>T , CM000682.1:g.62038613G>T	GRCh37
NC_000020.9:g.61509057G>T	NCBI36
NG_009004.1:g.70381C>A
NG_009004.2:g.70381C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2057C>A	ENSP00000516702.1:p.Pro686Gln
ENST00000359125.7:c.2003C>A MANE Select	ENSP00000352035.2:p.Pro668Gln
ENST00000637193.1:c.1400C>A	ENSP00000490734.1:p.Pro467Gln
ENST00000344462.8:c.1910C>A	ENSP00000339611.4:p.Pro637Gln
ENST00000357249.6:c.1571C>A	ENSP00000349789.3:p.Pro524Gln
ENST00000359125.6:c.2003C>A	ENSP00000352035.2:p.Pro668Gln
ENST00000360480.7:c.1919C>A	ENSP00000353668.3:p.Pro640Gln
ENST00000370224.5:c.2027C>A	ENSP00000359244.2:p.Pro676Gln
ENST00000625514.2:c.1991C>A	ENSP00000486040.1:p.Pro664Gln
ENST00000626839.2:c.1949C>A	ENSP00000486706.1:p.Pro650Gln
ENST00000629241.2:c.1919C>A	ENSP00000487142.1:p.Pro640Gln
ENST00000629676.2:c.1679+6190C>A	ENSP00000486194.1:n.1679+6190C>A
NM_004518.4:c.1919C>A	NP_004509.2:p.Pro640Gln
NM_172106.1:c.1949C>A	NP_742104.1:p.Pro650Gln
NM_172107.2:c.2003C>A	NP_742105.1:p.Pro668Gln
NM_172108.3:c.1910C>A	NP_742106.1:p.Pro637Gln
XM_006723787.1:c.2045C>A	XP_006723850.1:p.Pro682Gln
XM_011528807.1:c.2111C>A	XP_011527109.1:p.Pro704Gln
XM_011528808.1:c.2108C>A	XP_011527110.1:p.Pro703Gln
XM_011528809.1:c.2081C>A	XP_011527111.1:p.Pro694Gln
XM_011528810.1:c.2057C>A	XP_011527112.1:p.Pro686Gln
XM_011528811.1:c.2027C>A	XP_011527113.1:p.Pro676Gln
XM_011528812.1:c.2000C>A	XP_011527114.1:p.Pro667Gln
XM_011528813.1:c.1985C>A	XP_011527115.1:p.Pro662Gln
XM_011528814.1:c.1592C>A	XP_011527116.1:p.Pro531Gln
NM_004518.5:c.1919C>A	NP_004509.2:p.Pro640Gln
NM_172106.2:c.1949C>A	NP_742104.1:p.Pro650Gln
NM_172107.3:c.2003C>A	NP_742105.1:p.Pro668Gln
NM_172108.4:c.1910C>A	NP_742106.1:p.Pro637Gln
XM_011528810.2:c.2057C>A	XP_011527112.1:p.Pro686Gln
XM_011528811.2:c.2027C>A	XP_011527113.1:p.Pro676Gln
XM_017027841.2:c.2054C>A	XP_016883330.1:p.Pro685Gln
XM_017027842.2:c.1991C>A	XP_016883331.1:p.Pro664Gln
XM_017027843.1:c.1988C>A	XP_016883332.1:p.Pro663Gln
XM_017027844.2:c.1946C>A	XP_016883333.1:p.Pro649Gln
XM_017027845.1:c.1019C>A	XP_016883334.1:p.Pro340Gln
NM_004518.6:c.1919C>A	NP_004509.2:p.Pro640Gln
NM_172106.3:c.1949C>A	NP_742104.1:p.Pro650Gln
NM_172107.4:c.2003C>A MANE Select	NP_742105.1:p.Pro668Gln
NM_172108.5:c.1910C>A	NP_742106.1:p.Pro637Gln
NM_001382235.1:c.2057C>A	NP_001369164.1:p.Pro686Gln