Canonical Allele Identifier: CA2580098388

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406712dup , CM000682.2:g.63406712dup	GRCh38
NC_000020.10:g.62038065dup , CM000682.1:g.62038065dup	GRCh37
NC_000020.9:g.61508509dup	NCBI36
NG_009004.1:g.70933dup
NG_009004.2:g.70933dup

Transcript Alleles

HGVS	Amino-acid Change
NM_172107.4:c.2555dup MANE Select	NP_742105.1:p.Pro853AlafsTer12
ENST00000359125.7:c.2555dup MANE Select	ENSP00000352035.2:p.Pro853AlafsTer12
NM_001382235.1:c.2609dup	NP_001369164.1:p.Pro871AlafsTer12
NM_004518.4:c.2471dup	NP_004509.2:p.Pro825AlafsTer12
NM_004518.5:c.2471dup	NP_004509.2:p.Pro825AlafsTer12
NM_004518.6:c.2471dup	NP_004509.2:p.Pro825AlafsTer12
NM_172106.1:c.2501dup	NP_742104.1:p.Pro835AlafsTer12
NM_172106.2:c.2501dup	NP_742104.1:p.Pro835AlafsTer12
NM_172106.3:c.2501dup	NP_742104.1:p.Pro835AlafsTer12
NM_172107.2:c.2555dup	NP_742105.1:p.Pro853AlafsTer12
NM_172107.3:c.2555dup	NP_742105.1:p.Pro853AlafsTer12
NM_172108.3:c.2462dup	NP_742106.1:p.Pro822AlafsTer12
NM_172108.4:c.2462dup	NP_742106.1:p.Pro822AlafsTer12
NM_172108.5:c.2462dup	NP_742106.1:p.Pro822AlafsTer12
ENST00000344462.8:c.2462dup	ENSP00000339611.4:p.Pro822AlafsTer12
ENST00000357249.6:c.2123dup	ENSP00000349789.3:p.Pro709AlafsTer12
ENST00000359125.6:c.2555dup	ENSP00000352035.2:p.Pro853AlafsTer12
ENST00000360480.7:c.2471dup	ENSP00000353668.3:p.Pro825AlafsTer12
ENST00000370224.5:c.2241+338dup	ENSP00000359244.2:n.2241+338dup
ENST00000625514.2:c.2205+338dup	ENSP00000486040.1:n.2205+338dup
ENST00000626839.2:c.2501dup	ENSP00000486706.1:p.Pro835AlafsTer12
ENST00000629241.2:c.2133+338dup	ENSP00000487142.1:n.2133+338dup
ENST00000629676.2:c.1680-5865dup	ENSP00000486194.1:n.1680-5865dup
ENST00000637193.1:c.1952dup	ENSP00000490734.1:p.Pro652AlafsTer12
ENST00000706989.1:c.2609dup	ENSP00000516702.1:p.Pro871AlafsTer12
XM_006723787.1:c.2597dup	XP_006723850.1:p.Pro867AlafsTer12
XM_011528807.1:c.2663dup	XP_011527109.1:p.Pro889AlafsTer12
XM_011528808.1:c.2660dup	XP_011527110.1:p.Pro888AlafsTer12
XM_011528809.1:c.2633dup	XP_011527111.1:p.Pro879AlafsTer12
XM_011528810.1:c.2609dup	XP_011527112.1:p.Pro871AlafsTer12
XM_011528810.2:c.2609dup	XP_011527112.1:p.Pro871AlafsTer12
XM_011528811.1:c.2579dup	XP_011527113.1:p.Pro861AlafsTer12
XM_011528811.2:c.2579dup	XP_011527113.1:p.Pro861AlafsTer12
XM_011528812.1:c.2552dup	XP_011527114.1:p.Pro852AlafsTer12
XM_011528813.1:c.2537dup	XP_011527115.1:p.Pro847AlafsTer12
XM_011528814.1:c.2144dup	XP_011527116.1:p.Pro716AlafsTer12
XM_017027841.2:c.2606dup	XP_016883330.1:p.Pro870AlafsTer12
XM_017027842.2:c.2543dup	XP_016883331.1:p.Pro849AlafsTer12
XM_017027843.1:c.2540dup	XP_016883332.1:p.Pro848AlafsTer12
XM_017027844.2:c.2498dup	XP_016883333.1:p.Pro834AlafsTer12
XM_017027845.1:c.1571dup	XP_016883334.1:p.Pro525AlafsTer12