Canonical Allele Identifier: CA409639036

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038536T>C (hg19) ; chr20:g.63407183T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407183T>C , CM000682.2:g.63407183T>C	GRCh38
NC_000020.10:g.62038536T>C , CM000682.1:g.62038536T>C	GRCh37
NC_000020.9:g.61508980T>C	NCBI36
NG_009004.1:g.70458A>G
NG_009004.2:g.70458A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2134A>G	ENSP00000516702.1:p.Ser712Gly
ENST00000359125.7:c.2080A>G MANE Select	ENSP00000352035.2:p.Ser694Gly
ENST00000637193.1:c.1477A>G	ENSP00000490734.1:p.Ser493Gly
ENST00000344462.8:c.1987A>G	ENSP00000339611.4:p.Ser663Gly
ENST00000357249.6:c.1648A>G	ENSP00000349789.3:p.Ser550Gly
ENST00000359125.6:c.2080A>G	ENSP00000352035.2:p.Ser694Gly
ENST00000360480.7:c.1996A>G	ENSP00000353668.3:p.Ser666Gly
ENST00000370224.5:c.2104A>G	ENSP00000359244.2:p.Ser702Gly
ENST00000625514.2:c.2068A>G	ENSP00000486040.1:p.Ser690Gly
ENST00000626839.2:c.2026A>G	ENSP00000486706.1:p.Ser676Gly
ENST00000629241.2:c.1996A>G	ENSP00000487142.1:p.Ser666Gly
ENST00000629676.2:c.1679+6267A>G	ENSP00000486194.1:n.1679+6267A>G
NM_004518.4:c.1996A>G	NP_004509.2:p.Ser666Gly
NM_172106.1:c.2026A>G	NP_742104.1:p.Ser676Gly
NM_172107.2:c.2080A>G	NP_742105.1:p.Ser694Gly
NM_172108.3:c.1987A>G	NP_742106.1:p.Ser663Gly
XM_006723787.1:c.2122A>G	XP_006723850.1:p.Ser708Gly
XM_011528807.1:c.2188A>G	XP_011527109.1:p.Ser730Gly
XM_011528808.1:c.2185A>G	XP_011527110.1:p.Ser729Gly
XM_011528809.1:c.2158A>G	XP_011527111.1:p.Ser720Gly
XM_011528810.1:c.2134A>G	XP_011527112.1:p.Ser712Gly
XM_011528811.1:c.2104A>G	XP_011527113.1:p.Ser702Gly
XM_011528812.1:c.2077A>G	XP_011527114.1:p.Ser693Gly
XM_011528813.1:c.2062A>G	XP_011527115.1:p.Ser688Gly
XM_011528814.1:c.1669A>G	XP_011527116.1:p.Ser557Gly
NM_004518.5:c.1996A>G	NP_004509.2:p.Ser666Gly
NM_172106.2:c.2026A>G	NP_742104.1:p.Ser676Gly
NM_172107.3:c.2080A>G	NP_742105.1:p.Ser694Gly
NM_172108.4:c.1987A>G	NP_742106.1:p.Ser663Gly
XM_011528810.2:c.2134A>G	XP_011527112.1:p.Ser712Gly
XM_011528811.2:c.2104A>G	XP_011527113.1:p.Ser702Gly
XM_017027841.2:c.2131A>G	XP_016883330.1:p.Ser711Gly
XM_017027842.2:c.2068A>G	XP_016883331.1:p.Ser690Gly
XM_017027843.1:c.2065A>G	XP_016883332.1:p.Ser689Gly
XM_017027844.2:c.2023A>G	XP_016883333.1:p.Ser675Gly
XM_017027845.1:c.1096A>G	XP_016883334.1:p.Ser366Gly
NM_004518.6:c.1996A>G	NP_004509.2:p.Ser666Gly
NM_172106.3:c.2026A>G	NP_742104.1:p.Ser676Gly
NM_172107.4:c.2080A>G MANE Select	NP_742105.1:p.Ser694Gly
NM_172108.5:c.1987A>G	NP_742106.1:p.Ser663Gly
NM_001382235.1:c.2134A>G	NP_001369164.1:p.Ser712Gly