Canonical Allele Identifier: CA9958052

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 452658
• ClinVar RCV Id: RCV000519443
• dbSNP Id: rs774595024
• ExAC: 20:62038014 C / G
• MyVariant Identifiers: chr20:g.62038014C>G (hg19) ; chr20:g.63406661C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406661C>G , CM000682.2:g.63406661C>G	GRCh38
NC_000020.10:g.62038014C>G , CM000682.1:g.62038014C>G	GRCh37
NC_000020.9:g.61508458C>G	NCBI36
NG_009004.1:g.70980G>C
NG_009004.2:g.70980G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2656G>C	ENSP00000516702.1:p.Ala886Pro
ENST00000359125.7:c.2602G>C MANE Select	ENSP00000352035.2:p.Ala868Pro
ENST00000637193.1:c.1999G>C	ENSP00000490734.1:p.Ala667Pro
ENST00000344462.8:c.2509G>C	ENSP00000339611.4:p.Ala837Pro
ENST00000357249.6:c.2170G>C	ENSP00000349789.3:p.Ala724Pro
ENST00000359125.6:c.2602G>C	ENSP00000352035.2:p.Ala868Pro
ENST00000360480.7:c.2518G>C	ENSP00000353668.3:p.Ala840Pro
ENST00000370224.5:c.2241+385G>C	ENSP00000359244.2:n.2241+385G>C
ENST00000625514.2:c.2205+385G>C	ENSP00000486040.1:n.2205+385G>C
ENST00000626839.2:c.2548G>C	ENSP00000486706.1:p.Ala850Pro
ENST00000629241.2:c.2133+385G>C	ENSP00000487142.1:n.2133+385G>C
ENST00000629676.2:c.1680-5818G>C	ENSP00000486194.1:n.1680-5818G>C
NM_004518.4:c.2518G>C	NP_004509.2:p.Ala840Pro
NM_172106.1:c.2548G>C	NP_742104.1:p.Ala850Pro
NM_172107.2:c.2602G>C	NP_742105.1:p.Ala868Pro
NM_172108.3:c.2509G>C	NP_742106.1:p.Ala837Pro
XM_006723787.1:c.2644G>C	XP_006723850.1:p.Ala882Pro
XM_011528807.1:c.2710G>C	XP_011527109.1:p.Ala904Pro
XM_011528808.1:c.2707G>C	XP_011527110.1:p.Ala903Pro
XM_011528809.1:c.2680G>C	XP_011527111.1:p.Ala894Pro
XM_011528810.1:c.2656G>C	XP_011527112.1:p.Ala886Pro
XM_011528811.1:c.2626G>C	XP_011527113.1:p.Ala876Pro
XM_011528812.1:c.2599G>C	XP_011527114.1:p.Ala867Pro
XM_011528813.1:c.2584G>C	XP_011527115.1:p.Ala862Pro
XM_011528814.1:c.2191G>C	XP_011527116.1:p.Ala731Pro
NM_004518.5:c.2518G>C	NP_004509.2:p.Ala840Pro
NM_172106.2:c.2548G>C	NP_742104.1:p.Ala850Pro
NM_172107.3:c.2602G>C	NP_742105.1:p.Ala868Pro
NM_172108.4:c.2509G>C	NP_742106.1:p.Ala837Pro
XM_011528810.2:c.2656G>C	XP_011527112.1:p.Ala886Pro
XM_011528811.2:c.2626G>C	XP_011527113.1:p.Ala876Pro
XM_017027841.2:c.2653G>C	XP_016883330.1:p.Ala885Pro
XM_017027842.2:c.2590G>C	XP_016883331.1:p.Ala864Pro
XM_017027843.1:c.2587G>C	XP_016883332.1:p.Ala863Pro
XM_017027844.2:c.2545G>C	XP_016883333.1:p.Ala849Pro
XM_017027845.1:c.1618G>C	XP_016883334.1:p.Ala540Pro
NM_004518.6:c.2518G>C	NP_004509.2:p.Ala840Pro
NM_172106.3:c.2548G>C	NP_742104.1:p.Ala850Pro
NM_172107.4:c.2602G>C MANE Select	NP_742105.1:p.Ala868Pro
NM_172108.5:c.2509G>C	NP_742106.1:p.Ala837Pro
NM_001382235.1:c.2656G>C	NP_001369164.1:p.Ala886Pro