Canonical Allele Identifier: CA409638912

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1223683779
• gnomAD v4: 20-63407134-A-C
• MyVariant Identifiers: chr20:g.62038487A>C (hg19) ; chr20:g.63407134A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407134A>C , CM000682.2:g.63407134A>C	GRCh38
NC_000020.10:g.62038487A>C , CM000682.1:g.62038487A>C	GRCh37
NC_000020.9:g.61508931A>C	NCBI36
NG_009004.1:g.70507T>G
NG_009004.2:g.70507T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2183T>G	ENSP00000516702.1:p.Val728Gly
ENST00000359125.7:c.2129T>G MANE Select	ENSP00000352035.2:p.Val710Gly
ENST00000637193.1:c.1526T>G	ENSP00000490734.1:p.Val509Gly
ENST00000344462.8:c.2036T>G	ENSP00000339611.4:p.Val679Gly
ENST00000357249.6:c.1697T>G	ENSP00000349789.3:p.Val566Gly
ENST00000359125.6:c.2129T>G	ENSP00000352035.2:p.Val710Gly
ENST00000360480.7:c.2045T>G	ENSP00000353668.3:p.Val682Gly
ENST00000370224.5:c.2153T>G	ENSP00000359244.2:p.Val718Gly
ENST00000625514.2:c.2117T>G	ENSP00000486040.1:p.Val706Gly
ENST00000626839.2:c.2075T>G	ENSP00000486706.1:p.Val692Gly
ENST00000629241.2:c.2045T>G	ENSP00000487142.1:p.Val682Gly
ENST00000629676.2:c.1680-6291T>G	ENSP00000486194.1:n.1680-6291T>G
NM_004518.4:c.2045T>G	NP_004509.2:p.Val682Gly
NM_172106.1:c.2075T>G	NP_742104.1:p.Val692Gly
NM_172107.2:c.2129T>G	NP_742105.1:p.Val710Gly
NM_172108.3:c.2036T>G	NP_742106.1:p.Val679Gly
XM_006723787.1:c.2171T>G	XP_006723850.1:p.Val724Gly
XM_011528807.1:c.2237T>G	XP_011527109.1:p.Val746Gly
XM_011528808.1:c.2234T>G	XP_011527110.1:p.Val745Gly
XM_011528809.1:c.2207T>G	XP_011527111.1:p.Val736Gly
XM_011528810.1:c.2183T>G	XP_011527112.1:p.Val728Gly
XM_011528811.1:c.2153T>G	XP_011527113.1:p.Val718Gly
XM_011528812.1:c.2126T>G	XP_011527114.1:p.Val709Gly
XM_011528813.1:c.2111T>G	XP_011527115.1:p.Val704Gly
XM_011528814.1:c.1718T>G	XP_011527116.1:p.Val573Gly
NM_004518.5:c.2045T>G	NP_004509.2:p.Val682Gly
NM_172106.2:c.2075T>G	NP_742104.1:p.Val692Gly
NM_172107.3:c.2129T>G	NP_742105.1:p.Val710Gly
NM_172108.4:c.2036T>G	NP_742106.1:p.Val679Gly
XM_011528810.2:c.2183T>G	XP_011527112.1:p.Val728Gly
XM_011528811.2:c.2153T>G	XP_011527113.1:p.Val718Gly
XM_017027841.2:c.2180T>G	XP_016883330.1:p.Val727Gly
XM_017027842.2:c.2117T>G	XP_016883331.1:p.Val706Gly
XM_017027843.1:c.2114T>G	XP_016883332.1:p.Val705Gly
XM_017027844.2:c.2072T>G	XP_016883333.1:p.Val691Gly
XM_017027845.1:c.1145T>G	XP_016883334.1:p.Val382Gly
NM_004518.6:c.2045T>G	NP_004509.2:p.Val682Gly
NM_172106.3:c.2075T>G	NP_742104.1:p.Val692Gly
NM_172107.4:c.2129T>G MANE Select	NP_742105.1:p.Val710Gly
NM_172108.5:c.2036T>G	NP_742106.1:p.Val679Gly
NM_001382235.1:c.2183T>G	NP_001369164.1:p.Val728Gly