Canonical Allele Identifier: CA409639582

Gene: KCNQ2

Linked Data

• COSMIC: COSM3548993 ; COSM3548994 ; COSM3548995
• MyVariant Identifiers: chr20:g.62038717C>T (hg19) ; chr20:g.63407364C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407364C>T , CM000682.2:g.63407364C>T	GRCh38
NC_000020.10:g.62038717C>T , CM000682.1:g.62038717C>T	GRCh37
NC_000020.9:g.61509161C>T	NCBI36
NG_009004.1:g.70277G>A
NG_009004.2:g.70277G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1953G>A	ENSP00000516702.1:p.Met651Ile
ENST00000359125.7:c.1899G>A MANE Select	ENSP00000352035.2:p.Met633Ile
ENST00000637193.1:c.1296G>A	ENSP00000490734.1:p.Met432Ile
ENST00000637338.1:n.56G>A
ENST00000344462.8:c.1806G>A	ENSP00000339611.4:p.Met602Ile
ENST00000357249.6:c.1467G>A	ENSP00000349789.3:p.Met489Ile
ENST00000359125.6:c.1899G>A	ENSP00000352035.2:p.Met633Ile
ENST00000360480.7:c.1815G>A	ENSP00000353668.3:p.Met605Ile
ENST00000370224.5:c.1923G>A	ENSP00000359244.2:p.Met641Ile
ENST00000625514.2:c.1887G>A	ENSP00000486040.1:p.Met629Ile
ENST00000626839.2:c.1845G>A	ENSP00000486706.1:p.Met615Ile
ENST00000629241.2:c.1815G>A	ENSP00000487142.1:p.Met605Ile
ENST00000629676.2:c.1679+6086G>A	ENSP00000486194.1:n.1679+6086G>A
NM_004518.4:c.1815G>A	NP_004509.2:p.Met605Ile
NM_172106.1:c.1845G>A	NP_742104.1:p.Met615Ile
NM_172107.2:c.1899G>A	NP_742105.1:p.Met633Ile
NM_172108.3:c.1806G>A	NP_742106.1:p.Met602Ile
XM_006723787.1:c.1941G>A	XP_006723850.1:p.Met647Ile
XM_011528807.1:c.2007G>A	XP_011527109.1:p.Met669Ile
XM_011528808.1:c.2004G>A	XP_011527110.1:p.Met668Ile
XM_011528809.1:c.1977G>A	XP_011527111.1:p.Met659Ile
XM_011528810.1:c.1953G>A	XP_011527112.1:p.Met651Ile
XM_011528811.1:c.1923G>A	XP_011527113.1:p.Met641Ile
XM_011528812.1:c.1896G>A	XP_011527114.1:p.Met632Ile
XM_011528813.1:c.1881G>A	XP_011527115.1:p.Met627Ile
XM_011528814.1:c.1488G>A	XP_011527116.1:p.Met496Ile
NM_004518.5:c.1815G>A	NP_004509.2:p.Met605Ile
NM_172106.2:c.1845G>A	NP_742104.1:p.Met615Ile
NM_172107.3:c.1899G>A	NP_742105.1:p.Met633Ile
NM_172108.4:c.1806G>A	NP_742106.1:p.Met602Ile
XM_011528810.2:c.1953G>A	XP_011527112.1:p.Met651Ile
XM_011528811.2:c.1923G>A	XP_011527113.1:p.Met641Ile
XM_017027841.2:c.1950G>A	XP_016883330.1:p.Met650Ile
XM_017027842.2:c.1887G>A	XP_016883331.1:p.Met629Ile
XM_017027843.1:c.1884G>A	XP_016883332.1:p.Met628Ile
XM_017027844.2:c.1842G>A	XP_016883333.1:p.Met614Ile
XM_017027845.1:c.915G>A	XP_016883334.1:p.Met305Ile
NM_004518.6:c.1815G>A	NP_004509.2:p.Met605Ile
NM_172106.3:c.1845G>A	NP_742104.1:p.Met615Ile
NM_172107.4:c.1899G>A MANE Select	NP_742105.1:p.Met633Ile
NM_172108.5:c.1806G>A	NP_742106.1:p.Met602Ile
NM_001382235.1:c.1953G>A	NP_001369164.1:p.Met651Ile