Canonical Allele Identifier: CA409636366

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406660-G-A
• MyVariant Identifiers: chr20:g.62038013G>A (hg19) ; chr20:g.63406660G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406660G>A , CM000682.2:g.63406660G>A	GRCh38
NC_000020.10:g.62038013G>A , CM000682.1:g.62038013G>A	GRCh37
NC_000020.9:g.61508457G>A	NCBI36
NG_009004.1:g.70981C>T
NG_009004.2:g.70981C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2657C>T	ENSP00000516702.1:p.Ala886Val
ENST00000359125.7:c.2603C>T MANE Select	ENSP00000352035.2:p.Ala868Val
ENST00000637193.1:c.2000C>T	ENSP00000490734.1:p.Ala667Val
ENST00000344462.8:c.2510C>T	ENSP00000339611.4:p.Ala837Val
ENST00000357249.6:c.2171C>T	ENSP00000349789.3:p.Ala724Val
ENST00000359125.6:c.2603C>T	ENSP00000352035.2:p.Ala868Val
ENST00000360480.7:c.2519C>T	ENSP00000353668.3:p.Ala840Val
ENST00000370224.5:c.2241+386C>T	ENSP00000359244.2:n.2241+386C>T
ENST00000625514.2:c.2205+386C>T	ENSP00000486040.1:n.2205+386C>T
ENST00000626839.2:c.2549C>T	ENSP00000486706.1:p.Ala850Val
ENST00000629241.2:c.2133+386C>T	ENSP00000487142.1:n.2133+386C>T
ENST00000629676.2:c.1680-5817C>T	ENSP00000486194.1:n.1680-5817C>T
NM_004518.4:c.2519C>T	NP_004509.2:p.Ala840Val
NM_172106.1:c.2549C>T	NP_742104.1:p.Ala850Val
NM_172107.2:c.2603C>T	NP_742105.1:p.Ala868Val
NM_172108.3:c.2510C>T	NP_742106.1:p.Ala837Val
XM_006723787.1:c.2645C>T	XP_006723850.1:p.Ala882Val
XM_011528807.1:c.2711C>T	XP_011527109.1:p.Ala904Val
XM_011528808.1:c.2708C>T	XP_011527110.1:p.Ala903Val
XM_011528809.1:c.2681C>T	XP_011527111.1:p.Ala894Val
XM_011528810.1:c.2657C>T	XP_011527112.1:p.Ala886Val
XM_011528811.1:c.2627C>T	XP_011527113.1:p.Ala876Val
XM_011528812.1:c.2600C>T	XP_011527114.1:p.Ala867Val
XM_011528813.1:c.2585C>T	XP_011527115.1:p.Ala862Val
XM_011528814.1:c.2192C>T	XP_011527116.1:p.Ala731Val
NM_004518.5:c.2519C>T	NP_004509.2:p.Ala840Val
NM_172106.2:c.2549C>T	NP_742104.1:p.Ala850Val
NM_172107.3:c.2603C>T	NP_742105.1:p.Ala868Val
NM_172108.4:c.2510C>T	NP_742106.1:p.Ala837Val
XM_011528810.2:c.2657C>T	XP_011527112.1:p.Ala886Val
XM_011528811.2:c.2627C>T	XP_011527113.1:p.Ala876Val
XM_017027841.2:c.2654C>T	XP_016883330.1:p.Ala885Val
XM_017027842.2:c.2591C>T	XP_016883331.1:p.Ala864Val
XM_017027843.1:c.2588C>T	XP_016883332.1:p.Ala863Val
XM_017027844.2:c.2546C>T	XP_016883333.1:p.Ala849Val
XM_017027845.1:c.1619C>T	XP_016883334.1:p.Ala540Val
NM_004518.6:c.2519C>T	NP_004509.2:p.Ala840Val
NM_172106.3:c.2549C>T	NP_742104.1:p.Ala850Val
NM_172107.4:c.2603C>T MANE Select	NP_742105.1:p.Ala868Val
NM_172108.5:c.2510C>T	NP_742106.1:p.Ala837Val
NM_001382235.1:c.2657C>T	NP_001369164.1:p.Ala886Val