Canonical Allele Identifier: CA636614169

Gene: KCNQ2

Linked Data

• dbSNP Id: rs2079982410
• gnomAD v2: 20-62038765-CGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTA-C
• gnomAD v3: 20-63407412-CGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTA-C
• gnomAD v4: 20-63407412-CGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTA-C
• MyVariant Identifiers: chr20:g.62038766_62038877del (hg19) ; chr20:g.63407413_63407524del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407435_63407546del , CM000682.2:g.63407435_63407546del	GRCh38
NC_000020.10:g.62038788_62038899del , CM000682.1:g.62038788_62038899del	GRCh37
NC_000020.9:g.61509232_61509343del	NCBI36
NG_009004.1:g.70117_70228del
NG_009004.2:g.70117_70228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1942-149_1942-38del	ENSP00000516702.1:n.1942-149_1942-38del
ENST00000359125.7:c.1888-149_1888-38del MANE Select	ENSP00000352035.2:n.1888-149_1888-38del
ENST00000637193.1:c.1285-149_1285-38del	ENSP00000490734.1:n.1285-149_1285-38del
ENST00000637338.1:n.45-149_45-38del
ENST00000344462.8:c.1795-149_1795-38del	ENSP00000339611.4:n.1795-149_1795-38del
ENST00000357249.6:c.1456-149_1456-38del	ENSP00000349789.3:n.1456-149_1456-38del
ENST00000359125.6:c.1888-149_1888-38del	ENSP00000352035.2:n.1888-149_1888-38del
ENST00000360480.7:c.1804-149_1804-38del	ENSP00000353668.3:n.1804-149_1804-38del
ENST00000370224.5:c.1912-149_1912-38del	ENSP00000359244.2:n.1912-149_1912-38del
ENST00000625514.2:c.1876-149_1876-38del	ENSP00000486040.1:n.1876-149_1876-38del
ENST00000626839.2:c.1834-149_1834-38del	ENSP00000486706.1:n.1834-149_1834-38del
ENST00000629241.2:c.1804-149_1804-38del	ENSP00000487142.1:n.1804-149_1804-38del
ENST00000629676.2:c.1679+5926_1679+6037del	ENSP00000486194.1:n.1679+5926_1679+6037del
NM_004518.4:c.1804-149_1804-38del	NP_004509.2:n.1804-149_1804-38del
NM_172106.1:c.1834-149_1834-38del	NP_742104.1:n.1834-149_1834-38del
NM_172107.2:c.1888-149_1888-38del	NP_742105.1:n.1888-149_1888-38del
NM_172108.3:c.1795-149_1795-38del	NP_742106.1:n.1795-149_1795-38del
XM_006723787.1:c.1930-149_1930-38del	XP_006723850.1:n.1930-149_1930-38del
XM_011528807.1:c.1996-149_1996-38del	XP_011527109.1:n.1996-149_1996-38del
XM_011528808.1:c.1993-149_1993-38del	XP_011527110.1:n.1993-149_1993-38del
XM_011528809.1:c.1966-149_1966-38del	XP_011527111.1:n.1966-149_1966-38del
XM_011528810.1:c.1942-149_1942-38del	XP_011527112.1:n.1942-149_1942-38del
XM_011528811.1:c.1912-149_1912-38del	XP_011527113.1:n.1912-149_1912-38del
XM_011528812.1:c.1885-149_1885-38del	XP_011527114.1:n.1885-149_1885-38del
XM_011528813.1:c.1870-149_1870-38del	XP_011527115.1:n.1870-149_1870-38del
XM_011528814.1:c.1477-149_1477-38del	XP_011527116.1:n.1477-149_1477-38del
NM_004518.5:c.1804-149_1804-38del	NP_004509.2:n.1804-149_1804-38del
NM_172106.2:c.1834-149_1834-38del	NP_742104.1:n.1834-149_1834-38del
NM_172107.3:c.1888-149_1888-38del	NP_742105.1:n.1888-149_1888-38del
NM_172108.4:c.1795-149_1795-38del	NP_742106.1:n.1795-149_1795-38del
XM_011528810.2:c.1942-149_1942-38del	XP_011527112.1:n.1942-149_1942-38del
XM_011528811.2:c.1912-149_1912-38del	XP_011527113.1:n.1912-149_1912-38del
XM_017027841.2:c.1939-149_1939-38del	XP_016883330.1:n.1939-149_1939-38del
XM_017027842.2:c.1876-149_1876-38del	XP_016883331.1:n.1876-149_1876-38del
XM_017027843.1:c.1873-149_1873-38del	XP_016883332.1:n.1873-149_1873-38del
XM_017027844.2:c.1831-149_1831-38del	XP_016883333.1:n.1831-149_1831-38del
XM_017027845.1:c.904-149_904-38del	XP_016883334.1:n.904-149_904-38del
NM_004518.6:c.1804-149_1804-38del	NP_004509.2:n.1804-149_1804-38del
NM_172106.3:c.1834-149_1834-38del	NP_742104.1:n.1834-149_1834-38del
NM_172107.4:c.1888-149_1888-38del MANE Select	NP_742105.1:n.1888-149_1888-38del
NM_172108.5:c.1795-149_1795-38del	NP_742106.1:n.1795-149_1795-38del
NM_001382235.1:c.1942-149_1942-38del	NP_001369164.1:n.1942-149_1942-38del