Canonical Allele Identifier: CA2374778333

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414179_63414180delinsCG , CM000682.2:g.63414179_63414180delinsCG	GRCh38
NC_000020.10:g.62045532_62045533delinsCG , CM000682.1:g.62045532_62045533delinsCG	GRCh37
NC_000020.9:g.61515976_61515977delinsCG	NCBI36
NG_009004.1:g.63461_63462delinsCG
NG_009004.2:g.63461_63462delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1485_1486delinsCG	ENSP00000516702.1:p.Pro495=
ENST00000359125.7:c.1539_1540delinsCG MANE Select	ENSP00000352035.2:p.Pro513=
ENST00000637193.1:c.936_937delinsCG	ENSP00000490734.1:p.Pro312=
ENST00000344462.8:c.1446_1447delinsCG	ENSP00000339611.4:p.Pro482=
ENST00000357249.6:c.1107_1108delinsCG	ENSP00000349789.3:p.Pro369=
ENST00000359125.6:c.1539_1540delinsCG	ENSP00000352035.2:p.Pro513=
ENST00000360480.7:c.1455_1456delinsCG	ENSP00000353668.3:p.Pro485=
ENST00000370224.5:c.1455_1456delinsCG	ENSP00000359244.2:p.Pro485=
ENST00000625514.2:c.1419_1420delinsCG	ENSP00000486040.1:p.Pro473=
ENST00000626839.2:c.1485_1486delinsCG	ENSP00000486706.1:p.Pro495=
ENST00000627221.2:c.596_597delinsCG
ENST00000629241.2:c.1455_1456delinsCG	ENSP00000487142.1:p.Pro485=
ENST00000629318.1:c.147_148delinsCG	ENSP00000487384.1:p.Pro49=
ENST00000629676.2:c.1455_1456delinsCG	ENSP00000486194.1:p.Pro485=
NM_004518.4:c.1455_1456delinsCG	NP_004509.2:p.Pro485=
NM_172106.1:c.1485_1486delinsCG	NP_742104.1:p.Pro495=
NM_172107.2:c.1539_1540delinsCG	NP_742105.1:p.Pro513=
NM_172108.3:c.1446_1447delinsCG	NP_742106.1:p.Pro482=
XM_006723787.1:c.1539_1540delinsCG	XP_006723850.1:p.Pro513=
XM_011528807.1:c.1539_1540delinsCG	XP_011527109.1:p.Pro513=
XM_011528808.1:c.1536_1537delinsCG	XP_011527110.1:p.Pro512=
XM_011528809.1:c.1509_1510delinsCG	XP_011527111.1:p.Pro503=
XM_011528810.1:c.1485_1486delinsCG	XP_011527112.1:p.Pro495=
XM_011528811.1:c.1455_1456delinsCG	XP_011527113.1:p.Pro485=
XM_011528812.1:c.1536_1537delinsCG	XP_011527114.1:p.Pro512=
XM_011528813.1:c.1413_1414delinsCG	XP_011527115.1:p.Pro471=
XM_011528814.1:c.1020_1021delinsCG	XP_011527116.1:p.Pro340=
XM_011528815.1:c.1539_1540delinsCG	XP_011527117.1:p.Pro513=
NM_004518.5:c.1455_1456delinsCG	NP_004509.2:p.Pro485=
NM_172106.2:c.1485_1486delinsCG	NP_742104.1:p.Pro495=
NM_172107.3:c.1539_1540delinsCG	NP_742105.1:p.Pro513=
NM_172108.4:c.1446_1447delinsCG	NP_742106.1:p.Pro482=
XM_011528810.2:c.1485_1486delinsCG	XP_011527112.1:p.Pro495=
XM_011528811.2:c.1455_1456delinsCG	XP_011527113.1:p.Pro485=
XM_017027841.2:c.1482_1483delinsCG	XP_016883330.1:p.Pro494=
XM_017027842.2:c.1485_1486delinsCG	XP_016883331.1:p.Pro495=
XM_017027843.1:c.1416_1417delinsCG	XP_016883332.1:p.Pro472=
XM_017027844.2:c.1482_1483delinsCG	XP_016883333.1:p.Pro494=
XM_017027845.1:c.447_448delinsCG	XP_016883334.1:p.Pro149=
NM_004518.6:c.1455_1456delinsCG	NP_004509.2:p.Pro485=
NM_172106.3:c.1485_1486delinsCG	NP_742104.1:p.Pro495=
NM_172107.4:c.1539_1540delinsCG MANE Select	NP_742105.1:p.Pro513=
NM_172108.5:c.1446_1447delinsCG	NP_742106.1:p.Pro482=
NM_001382235.1:c.1485_1486delinsCG	NP_001369164.1:p.Pro495=