Canonical Allele Identifier: CA409639644

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038730T>C (hg19) ; chr20:g.63407377T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407377T>C , CM000682.2:g.63407377T>C	GRCh38
NC_000020.10:g.62038730T>C , CM000682.1:g.62038730T>C	GRCh37
NC_000020.9:g.61509174T>C	NCBI36
NG_009004.1:g.70264A>G
NG_009004.2:g.70264A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1942-2A>G	ENSP00000516702.1:n.1942-2A>G
ENST00000359125.7:c.1888-2A>G MANE Select	ENSP00000352035.2:n.1888-2A>G
ENST00000637193.1:c.1285-2A>G	ENSP00000490734.1:n.1285-2A>G
ENST00000637338.1:n.45-2A>G
ENST00000344462.8:c.1795-2A>G	ENSP00000339611.4:n.1795-2A>G
ENST00000357249.6:c.1456-2A>G	ENSP00000349789.3:n.1456-2A>G
ENST00000359125.6:c.1888-2A>G	ENSP00000352035.2:n.1888-2A>G
ENST00000360480.7:c.1804-2A>G	ENSP00000353668.3:n.1804-2A>G
ENST00000370224.5:c.1912-2A>G	ENSP00000359244.2:n.1912-2A>G
ENST00000625514.2:c.1876-2A>G	ENSP00000486040.1:n.1876-2A>G
ENST00000626839.2:c.1834-2A>G	ENSP00000486706.1:n.1834-2A>G
ENST00000629241.2:c.1804-2A>G	ENSP00000487142.1:n.1804-2A>G
ENST00000629676.2:c.1679+6073A>G	ENSP00000486194.1:n.1679+6073A>G
NM_004518.4:c.1804-2A>G	NP_004509.2:n.1804-2A>G
NM_172106.1:c.1834-2A>G	NP_742104.1:n.1834-2A>G
NM_172107.2:c.1888-2A>G	NP_742105.1:n.1888-2A>G
NM_172108.3:c.1795-2A>G	NP_742106.1:n.1795-2A>G
XM_006723787.1:c.1930-2A>G	XP_006723850.1:n.1930-2A>G
XM_011528807.1:c.1996-2A>G	XP_011527109.1:n.1996-2A>G
XM_011528808.1:c.1993-2A>G	XP_011527110.1:n.1993-2A>G
XM_011528809.1:c.1966-2A>G	XP_011527111.1:n.1966-2A>G
XM_011528810.1:c.1942-2A>G	XP_011527112.1:n.1942-2A>G
XM_011528811.1:c.1912-2A>G	XP_011527113.1:n.1912-2A>G
XM_011528812.1:c.1885-2A>G	XP_011527114.1:n.1885-2A>G
XM_011528813.1:c.1870-2A>G	XP_011527115.1:n.1870-2A>G
XM_011528814.1:c.1477-2A>G	XP_011527116.1:n.1477-2A>G
NM_004518.5:c.1804-2A>G	NP_004509.2:n.1804-2A>G
NM_172106.2:c.1834-2A>G	NP_742104.1:n.1834-2A>G
NM_172107.3:c.1888-2A>G	NP_742105.1:n.1888-2A>G
NM_172108.4:c.1795-2A>G	NP_742106.1:n.1795-2A>G
XM_011528810.2:c.1942-2A>G	XP_011527112.1:n.1942-2A>G
XM_011528811.2:c.1912-2A>G	XP_011527113.1:n.1912-2A>G
XM_017027841.2:c.1939-2A>G	XP_016883330.1:n.1939-2A>G
XM_017027842.2:c.1876-2A>G	XP_016883331.1:n.1876-2A>G
XM_017027843.1:c.1873-2A>G	XP_016883332.1:n.1873-2A>G
XM_017027844.2:c.1831-2A>G	XP_016883333.1:n.1831-2A>G
XM_017027845.1:c.904-2A>G	XP_016883334.1:n.904-2A>G
NM_004518.6:c.1804-2A>G	NP_004509.2:n.1804-2A>G
NM_172106.3:c.1834-2A>G	NP_742104.1:n.1834-2A>G
NM_172107.4:c.1888-2A>G MANE Select	NP_742105.1:n.1888-2A>G
NM_172108.5:c.1795-2A>G	NP_742106.1:n.1795-2A>G
NM_001382235.1:c.1942-2A>G	NP_001369164.1:n.1942-2A>G