Canonical Allele Identifier: CA409638906

Gene: KCNQ2

Linked Data

• COSMIC: COSM6443685 ; COSM6443686 ; COSM6443687
• MyVariant Identifiers: chr20:g.62038485G>A (hg19) ; chr20:g.63407132G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407132G>A , CM000682.2:g.63407132G>A	GRCh38
NC_000020.10:g.62038485G>A , CM000682.1:g.62038485G>A	GRCh37
NC_000020.9:g.61508929G>A	NCBI36
NG_009004.1:g.70509C>T
NG_009004.2:g.70509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2185C>T	ENSP00000516702.1:p.Gln729Ter
ENST00000359125.7:c.2131C>T MANE Select	ENSP00000352035.2:p.Gln711Ter
ENST00000637193.1:c.1528C>T	ENSP00000490734.1:p.Gln510Ter
ENST00000344462.8:c.2038C>T	ENSP00000339611.4:p.Gln680Ter
ENST00000357249.6:c.1699C>T	ENSP00000349789.3:p.Gln567Ter
ENST00000359125.6:c.2131C>T	ENSP00000352035.2:p.Gln711Ter
ENST00000360480.7:c.2047C>T	ENSP00000353668.3:p.Gln683Ter
ENST00000370224.5:c.2155C>T	ENSP00000359244.2:p.Gln719Ter
ENST00000625514.2:c.2119C>T	ENSP00000486040.1:p.Gln707Ter
ENST00000626839.2:c.2077C>T	ENSP00000486706.1:p.Gln693Ter
ENST00000629241.2:c.2047C>T	ENSP00000487142.1:p.Gln683Ter
ENST00000629676.2:c.1680-6289C>T	ENSP00000486194.1:n.1680-6289C>T
NM_004518.4:c.2047C>T	NP_004509.2:p.Gln683Ter
NM_172106.1:c.2077C>T	NP_742104.1:p.Gln693Ter
NM_172107.2:c.2131C>T	NP_742105.1:p.Gln711Ter
NM_172108.3:c.2038C>T	NP_742106.1:p.Gln680Ter
XM_006723787.1:c.2173C>T	XP_006723850.1:p.Gln725Ter
XM_011528807.1:c.2239C>T	XP_011527109.1:p.Gln747Ter
XM_011528808.1:c.2236C>T	XP_011527110.1:p.Gln746Ter
XM_011528809.1:c.2209C>T	XP_011527111.1:p.Gln737Ter
XM_011528810.1:c.2185C>T	XP_011527112.1:p.Gln729Ter
XM_011528811.1:c.2155C>T	XP_011527113.1:p.Gln719Ter
XM_011528812.1:c.2128C>T	XP_011527114.1:p.Gln710Ter
XM_011528813.1:c.2113C>T	XP_011527115.1:p.Gln705Ter
XM_011528814.1:c.1720C>T	XP_011527116.1:p.Gln574Ter
NM_004518.5:c.2047C>T	NP_004509.2:p.Gln683Ter
NM_172106.2:c.2077C>T	NP_742104.1:p.Gln693Ter
NM_172107.3:c.2131C>T	NP_742105.1:p.Gln711Ter
NM_172108.4:c.2038C>T	NP_742106.1:p.Gln680Ter
XM_011528810.2:c.2185C>T	XP_011527112.1:p.Gln729Ter
XM_011528811.2:c.2155C>T	XP_011527113.1:p.Gln719Ter
XM_017027841.2:c.2182C>T	XP_016883330.1:p.Gln728Ter
XM_017027842.2:c.2119C>T	XP_016883331.1:p.Gln707Ter
XM_017027843.1:c.2116C>T	XP_016883332.1:p.Gln706Ter
XM_017027844.2:c.2074C>T	XP_016883333.1:p.Gln692Ter
XM_017027845.1:c.1147C>T	XP_016883334.1:p.Gln383Ter
NM_004518.6:c.2047C>T	NP_004509.2:p.Gln683Ter
NM_172106.3:c.2077C>T	NP_742104.1:p.Gln693Ter
NM_172107.4:c.2131C>T MANE Select	NP_742105.1:p.Gln711Ter
NM_172108.5:c.2038C>T	NP_742106.1:p.Gln680Ter
NM_001382235.1:c.2185C>T	NP_001369164.1:p.Gln729Ter