Canonical Allele Identifier: CA10654781

Gene: KCNQ2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63413481T>C , CM000682.2:g.63413481T>C	GRCh38
NC_000020.10:g.62044834T>C , CM000682.1:g.62044834T>C	GRCh37
NC_000020.9:g.61515278T>C	NCBI36
NG_009004.1:g.64160A>G
NG_009004.2:g.64160A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1678A>G	ENSP00000516702.1:p.Met560Val
ENST00000359125.7:c.1732A>G MANE Select	ENSP00000352035.2:p.Met578Val
ENST00000637193.1:c.1129A>G	ENSP00000490734.1:p.Met377Val
ENST00000344462.8:c.1639A>G	ENSP00000339611.4:p.Met547Val
ENST00000357249.6:c.1300A>G	ENSP00000349789.3:p.Met434Val
ENST00000359125.6:c.1732A>G	ENSP00000352035.2:p.Met578Val
ENST00000360480.7:c.1648A>G	ENSP00000353668.3:p.Met550Val
ENST00000370224.5:c.1648A>G	ENSP00000359244.2:p.Met550Val
ENST00000625514.2:c.1612A>G	ENSP00000486040.1:p.Met538Val
ENST00000626839.2:c.1678A>G	ENSP00000486706.1:p.Met560Val
ENST00000629241.2:c.1648A>G	ENSP00000487142.1:p.Met550Val
ENST00000629318.1:c.340A>G	ENSP00000487384.1:p.Met114Val
ENST00000629676.2:c.1648A>G	ENSP00000486194.1:p.Met550Val
NM_004518.4:c.1648A>G	NP_004509.2:p.Met550Val
NM_172106.1:c.1678A>G	NP_742104.1:p.Met560Val
NM_172107.2:c.1732A>G	NP_742105.1:p.Met578Val
NM_172108.3:c.1639A>G	NP_742106.1:p.Met547Val
XM_006723787.1:c.1732A>G	XP_006723850.1:p.Met578Val
XM_011528807.1:c.1732A>G	XP_011527109.1:p.Met578Val
XM_011528808.1:c.1729A>G	XP_011527110.1:p.Met577Val
XM_011528809.1:c.1702A>G	XP_011527111.1:p.Met568Val
XM_011528810.1:c.1678A>G	XP_011527112.1:p.Met560Val
XM_011528811.1:c.1648A>G	XP_011527113.1:p.Met550Val
XM_011528812.1:c.1729A>G	XP_011527114.1:p.Met577Val
XM_011528813.1:c.1606A>G	XP_011527115.1:p.Met536Val
XM_011528814.1:c.1213A>G	XP_011527116.1:p.Met405Val
XM_011528815.1:c.1732A>G	XP_011527117.1:p.Met578Val
NM_004518.5:c.1648A>G	NP_004509.2:p.Met550Val
NM_172106.2:c.1678A>G	NP_742104.1:p.Met560Val
NM_172107.3:c.1732A>G	NP_742105.1:p.Met578Val
NM_172108.4:c.1639A>G	NP_742106.1:p.Met547Val
XM_011528810.2:c.1678A>G	XP_011527112.1:p.Met560Val
XM_011528811.2:c.1648A>G	XP_011527113.1:p.Met550Val
XM_017027841.2:c.1675A>G	XP_016883330.1:p.Met559Val
XM_017027842.2:c.1678A>G	XP_016883331.1:p.Met560Val
XM_017027843.1:c.1609A>G	XP_016883332.1:p.Met537Val
XM_017027844.2:c.1675A>G	XP_016883333.1:p.Met559Val
XM_017027845.1:c.640A>G	XP_016883334.1:p.Met214Val
NM_004518.6:c.1648A>G	NP_004509.2:p.Met550Val
NM_172106.3:c.1678A>G	NP_742104.1:p.Met560Val
NM_172107.4:c.1732A>G MANE Select	NP_742105.1:p.Met578Val
NM_172108.5:c.1639A>G	NP_742106.1:p.Met547Val
NM_001382235.1:c.1678A>G	NP_001369164.1:p.Met560Val