Canonical Allele Identifier: CA409636371

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406660-G-T
• COSMIC: COSM5693634 ; COSM5693635 ; COSM5693636
• MyVariant Identifiers: chr20:g.62038013G>T (hg19) ; chr20:g.63406660G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2657C>A	ENSP00000516702.1:p.Ala886Asp
ENST00000359125.7:c.2603C>A MANE Select	ENSP00000352035.2:p.Ala868Asp
ENST00000637193.1:c.2000C>A	ENSP00000490734.1:p.Ala667Asp
ENST00000344462.8:c.2510C>A	ENSP00000339611.4:p.Ala837Asp
ENST00000357249.6:c.2171C>A	ENSP00000349789.3:p.Ala724Asp
ENST00000359125.6:c.2603C>A	ENSP00000352035.2:p.Ala868Asp
ENST00000360480.7:c.2519C>A	ENSP00000353668.3:p.Ala840Asp
ENST00000370224.5:c.2241+386C>A	ENSP00000359244.2:n.2241+386C>A
ENST00000625514.2:c.2205+386C>A	ENSP00000486040.1:n.2205+386C>A
ENST00000626839.2:c.2549C>A	ENSP00000486706.1:p.Ala850Asp
ENST00000629241.2:c.2133+386C>A	ENSP00000487142.1:n.2133+386C>A
ENST00000629676.2:c.1680-5817C>A	ENSP00000486194.1:n.1680-5817C>A
NM_004518.4:c.2519C>A	NP_004509.2:p.Ala840Asp
NM_172106.1:c.2549C>A	NP_742104.1:p.Ala850Asp
NM_172107.2:c.2603C>A	NP_742105.1:p.Ala868Asp
NM_172108.3:c.2510C>A	NP_742106.1:p.Ala837Asp
XM_006723787.1:c.2645C>A	XP_006723850.1:p.Ala882Asp
XM_011528807.1:c.2711C>A	XP_011527109.1:p.Ala904Asp
XM_011528808.1:c.2708C>A	XP_011527110.1:p.Ala903Asp
XM_011528809.1:c.2681C>A	XP_011527111.1:p.Ala894Asp
XM_011528810.1:c.2657C>A	XP_011527112.1:p.Ala886Asp
XM_011528811.1:c.2627C>A	XP_011527113.1:p.Ala876Asp
XM_011528812.1:c.2600C>A	XP_011527114.1:p.Ala867Asp
XM_011528813.1:c.2585C>A	XP_011527115.1:p.Ala862Asp
XM_011528814.1:c.2192C>A	XP_011527116.1:p.Ala731Asp
NM_004518.5:c.2519C>A	NP_004509.2:p.Ala840Asp
NM_172106.2:c.2549C>A	NP_742104.1:p.Ala850Asp
NM_172107.3:c.2603C>A	NP_742105.1:p.Ala868Asp
NM_172108.4:c.2510C>A	NP_742106.1:p.Ala837Asp
XM_011528810.2:c.2657C>A	XP_011527112.1:p.Ala886Asp
XM_011528811.2:c.2627C>A	XP_011527113.1:p.Ala876Asp
XM_017027841.2:c.2654C>A	XP_016883330.1:p.Ala885Asp
XM_017027842.2:c.2591C>A	XP_016883331.1:p.Ala864Asp
XM_017027843.1:c.2588C>A	XP_016883332.1:p.Ala863Asp
XM_017027844.2:c.2546C>A	XP_016883333.1:p.Ala849Asp
XM_017027845.1:c.1619C>A	XP_016883334.1:p.Ala540Asp
NM_004518.6:c.2519C>A	NP_004509.2:p.Ala840Asp
NM_172106.3:c.2549C>A	NP_742104.1:p.Ala850Asp
NM_172107.4:c.2603C>A MANE Select	NP_742105.1:p.Ala868Asp
NM_172108.5:c.2510C>A	NP_742106.1:p.Ala837Asp
NM_001382235.1:c.2657C>A	NP_001369164.1:p.Ala886Asp