Canonical Allele Identifier: CA409639230

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038625G>C (hg19) ; chr20:g.63407272G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407272G>C , CM000682.2:g.63407272G>C	GRCh38
NC_000020.10:g.62038625G>C , CM000682.1:g.62038625G>C	GRCh37
NC_000020.9:g.61509069G>C	NCBI36
NG_009004.1:g.70369C>G
NG_009004.2:g.70369C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2045C>G	ENSP00000516702.1:p.Pro682Arg
ENST00000359125.7:c.1991C>G MANE Select	ENSP00000352035.2:p.Pro664Arg
ENST00000637193.1:c.1388C>G	ENSP00000490734.1:p.Pro463Arg
ENST00000344462.8:c.1898C>G	ENSP00000339611.4:p.Pro633Arg
ENST00000357249.6:c.1559C>G	ENSP00000349789.3:p.Pro520Arg
ENST00000359125.6:c.1991C>G	ENSP00000352035.2:p.Pro664Arg
ENST00000360480.7:c.1907C>G	ENSP00000353668.3:p.Pro636Arg
ENST00000370224.5:c.2015C>G	ENSP00000359244.2:p.Pro672Arg
ENST00000625514.2:c.1979C>G	ENSP00000486040.1:p.Pro660Arg
ENST00000626839.2:c.1937C>G	ENSP00000486706.1:p.Pro646Arg
ENST00000629241.2:c.1907C>G	ENSP00000487142.1:p.Pro636Arg
ENST00000629676.2:c.1679+6178C>G	ENSP00000486194.1:n.1679+6178C>G
NM_004518.4:c.1907C>G	NP_004509.2:p.Pro636Arg
NM_172106.1:c.1937C>G	NP_742104.1:p.Pro646Arg
NM_172107.2:c.1991C>G	NP_742105.1:p.Pro664Arg
NM_172108.3:c.1898C>G	NP_742106.1:p.Pro633Arg
XM_006723787.1:c.2033C>G	XP_006723850.1:p.Pro678Arg
XM_011528807.1:c.2099C>G	XP_011527109.1:p.Pro700Arg
XM_011528808.1:c.2096C>G	XP_011527110.1:p.Pro699Arg
XM_011528809.1:c.2069C>G	XP_011527111.1:p.Pro690Arg
XM_011528810.1:c.2045C>G	XP_011527112.1:p.Pro682Arg
XM_011528811.1:c.2015C>G	XP_011527113.1:p.Pro672Arg
XM_011528812.1:c.1988C>G	XP_011527114.1:p.Pro663Arg
XM_011528813.1:c.1973C>G	XP_011527115.1:p.Pro658Arg
XM_011528814.1:c.1580C>G	XP_011527116.1:p.Pro527Arg
NM_004518.5:c.1907C>G	NP_004509.2:p.Pro636Arg
NM_172106.2:c.1937C>G	NP_742104.1:p.Pro646Arg
NM_172107.3:c.1991C>G	NP_742105.1:p.Pro664Arg
NM_172108.4:c.1898C>G	NP_742106.1:p.Pro633Arg
XM_011528810.2:c.2045C>G	XP_011527112.1:p.Pro682Arg
XM_011528811.2:c.2015C>G	XP_011527113.1:p.Pro672Arg
XM_017027841.2:c.2042C>G	XP_016883330.1:p.Pro681Arg
XM_017027842.2:c.1979C>G	XP_016883331.1:p.Pro660Arg
XM_017027843.1:c.1976C>G	XP_016883332.1:p.Pro659Arg
XM_017027844.2:c.1934C>G	XP_016883333.1:p.Pro645Arg
XM_017027845.1:c.1007C>G	XP_016883334.1:p.Pro336Arg
NM_004518.6:c.1907C>G	NP_004509.2:p.Pro636Arg
NM_172106.3:c.1937C>G	NP_742104.1:p.Pro646Arg
NM_172107.4:c.1991C>G MANE Select	NP_742105.1:p.Pro664Arg
NM_172108.5:c.1898C>G	NP_742106.1:p.Pro633Arg
NM_001382235.1:c.2045C>G	NP_001369164.1:p.Pro682Arg