Canonical Allele Identifier: CA2374778319

Gene: KCNQ2

Linked Data

• dbSNP Id: rs2080212304

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414158_63414160dup , CM000682.2:g.63414158_63414160dup	GRCh38
NC_000020.10:g.62045511_62045513dup , CM000682.1:g.62045511_62045513dup	GRCh37
NC_000020.9:g.61515955_61515957dup	NCBI36
NG_009004.1:g.63482_63484dup
NG_009004.2:g.63482_63484dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1506_1508dup	ENSP00000516702.1:p.Asp502_Lys503insAsn
ENST00000359125.7:c.1560_1562dup MANE Select	ENSP00000352035.2:p.Asp520_Lys521insAsn
ENST00000637193.1:c.957_959dup	ENSP00000490734.1:p.Asp319_Lys320insAsn
ENST00000344462.8:c.1467_1469dup	ENSP00000339611.4:p.Asp489_Lys490insAsn
ENST00000357249.6:c.1128_1130dup	ENSP00000349789.3:p.Asp376_Lys377insAsn
ENST00000359125.6:c.1560_1562dup	ENSP00000352035.2:p.Asp520_Lys521insAsn
ENST00000360480.7:c.1476_1478dup	ENSP00000353668.3:p.Asp492_Lys493insAsn
ENST00000370224.5:c.1476_1478dup	ENSP00000359244.2:p.Asp492_Lys493insAsn
ENST00000625514.2:c.1440_1442dup	ENSP00000486040.1:p.Asp480_Lys481insAsn
ENST00000626839.2:c.1506_1508dup	ENSP00000486706.1:p.Asp502_Lys503insAsn
ENST00000627221.2:c.617_619dup
ENST00000629241.2:c.1476_1478dup	ENSP00000487142.1:p.Asp492_Lys493insAsn
ENST00000629318.1:c.168_170dup	ENSP00000487384.1:p.Asp56_Lys57insAsn
ENST00000629676.2:c.1476_1478dup	ENSP00000486194.1:p.Asp492_Lys493insAsn
NM_004518.4:c.1476_1478dup	NP_004509.2:p.Asp492_Lys493insAsn
NM_172106.1:c.1506_1508dup	NP_742104.1:p.Asp502_Lys503insAsn
NM_172107.2:c.1560_1562dup	NP_742105.1:p.Asp520_Lys521insAsn
NM_172108.3:c.1467_1469dup	NP_742106.1:p.Asp489_Lys490insAsn
XM_006723787.1:c.1560_1562dup	XP_006723850.1:p.Asp520_Lys521insAsn
XM_011528807.1:c.1560_1562dup	XP_011527109.1:p.Asp520_Lys521insAsn
XM_011528808.1:c.1557_1559dup	XP_011527110.1:p.Asp519_Lys520insAsn
XM_011528809.1:c.1530_1532dup	XP_011527111.1:p.Asp510_Lys511insAsn
XM_011528810.1:c.1506_1508dup	XP_011527112.1:p.Asp502_Lys503insAsn
XM_011528811.1:c.1476_1478dup	XP_011527113.1:p.Asp492_Lys493insAsn
XM_011528812.1:c.1557_1559dup	XP_011527114.1:p.Asp519_Lys520insAsn
XM_011528813.1:c.1434_1436dup	XP_011527115.1:p.Asp478_Lys479insAsn
XM_011528814.1:c.1041_1043dup	XP_011527116.1:p.Asp347_Lys348insAsn
XM_011528815.1:c.1560_1562dup	XP_011527117.1:p.Asp520_Lys521insAsn
NM_004518.5:c.1476_1478dup	NP_004509.2:p.Asp492_Lys493insAsn
NM_172106.2:c.1506_1508dup	NP_742104.1:p.Asp502_Lys503insAsn
NM_172107.3:c.1560_1562dup	NP_742105.1:p.Asp520_Lys521insAsn
NM_172108.4:c.1467_1469dup	NP_742106.1:p.Asp489_Lys490insAsn
XM_011528810.2:c.1506_1508dup	XP_011527112.1:p.Asp502_Lys503insAsn
XM_011528811.2:c.1476_1478dup	XP_011527113.1:p.Asp492_Lys493insAsn
XM_017027841.2:c.1503_1505dup	XP_016883330.1:p.Asp501_Lys502insAsn
XM_017027842.2:c.1506_1508dup	XP_016883331.1:p.Asp502_Lys503insAsn
XM_017027843.1:c.1437_1439dup	XP_016883332.1:p.Asp479_Lys480insAsn
XM_017027844.2:c.1503_1505dup	XP_016883333.1:p.Asp501_Lys502insAsn
XM_017027845.1:c.468_470dup	XP_016883334.1:p.Asp156_Lys157insAsn
NM_004518.6:c.1476_1478dup	NP_004509.2:p.Asp492_Lys493insAsn
NM_172106.3:c.1506_1508dup	NP_742104.1:p.Asp502_Lys503insAsn
NM_172107.4:c.1560_1562dup MANE Select	NP_742105.1:p.Asp520_Lys521insAsn
NM_172108.5:c.1467_1469dup	NP_742106.1:p.Asp489_Lys490insAsn
NM_001382235.1:c.1506_1508dup	NP_001369164.1:p.Asp502_Lys503insAsn