Canonical Allele Identifier: CA409638925

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 858105
• ClinVar RCV Id: RCV001063911
• dbSNP Id: rs2079968880
• gnomAD v4: 20-63407137-G-A
• MyVariant Identifiers: chr20:g.62038490G>A (hg19) ; chr20:g.63407137G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407137G>A , CM000682.2:g.63407137G>A	GRCh38
NC_000020.10:g.62038490G>A , CM000682.1:g.62038490G>A	GRCh37
NC_000020.9:g.61508934G>A	NCBI36
NG_009004.1:g.70504C>T
NG_009004.2:g.70504C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2180C>T	ENSP00000516702.1:p.Pro727Leu
ENST00000359125.7:c.2126C>T MANE Select	ENSP00000352035.2:p.Pro709Leu
ENST00000637193.1:c.1523C>T	ENSP00000490734.1:p.Pro508Leu
ENST00000344462.8:c.2033C>T	ENSP00000339611.4:p.Pro678Leu
ENST00000357249.6:c.1694C>T	ENSP00000349789.3:p.Pro565Leu
ENST00000359125.6:c.2126C>T	ENSP00000352035.2:p.Pro709Leu
ENST00000360480.7:c.2042C>T	ENSP00000353668.3:p.Pro681Leu
ENST00000370224.5:c.2150C>T	ENSP00000359244.2:p.Pro717Leu
ENST00000625514.2:c.2114C>T	ENSP00000486040.1:p.Pro705Leu
ENST00000626839.2:c.2072C>T	ENSP00000486706.1:p.Pro691Leu
ENST00000629241.2:c.2042C>T	ENSP00000487142.1:p.Pro681Leu
ENST00000629676.2:c.1680-6294C>T	ENSP00000486194.1:n.1680-6294C>T
NM_004518.4:c.2042C>T	NP_004509.2:p.Pro681Leu
NM_172106.1:c.2072C>T	NP_742104.1:p.Pro691Leu
NM_172107.2:c.2126C>T	NP_742105.1:p.Pro709Leu
NM_172108.3:c.2033C>T	NP_742106.1:p.Pro678Leu
XM_006723787.1:c.2168C>T	XP_006723850.1:p.Pro723Leu
XM_011528807.1:c.2234C>T	XP_011527109.1:p.Pro745Leu
XM_011528808.1:c.2231C>T	XP_011527110.1:p.Pro744Leu
XM_011528809.1:c.2204C>T	XP_011527111.1:p.Pro735Leu
XM_011528810.1:c.2180C>T	XP_011527112.1:p.Pro727Leu
XM_011528811.1:c.2150C>T	XP_011527113.1:p.Pro717Leu
XM_011528812.1:c.2123C>T	XP_011527114.1:p.Pro708Leu
XM_011528813.1:c.2108C>T	XP_011527115.1:p.Pro703Leu
XM_011528814.1:c.1715C>T	XP_011527116.1:p.Pro572Leu
NM_004518.5:c.2042C>T	NP_004509.2:p.Pro681Leu
NM_172106.2:c.2072C>T	NP_742104.1:p.Pro691Leu
NM_172107.3:c.2126C>T	NP_742105.1:p.Pro709Leu
NM_172108.4:c.2033C>T	NP_742106.1:p.Pro678Leu
XM_011528810.2:c.2180C>T	XP_011527112.1:p.Pro727Leu
XM_011528811.2:c.2150C>T	XP_011527113.1:p.Pro717Leu
XM_017027841.2:c.2177C>T	XP_016883330.1:p.Pro726Leu
XM_017027842.2:c.2114C>T	XP_016883331.1:p.Pro705Leu
XM_017027843.1:c.2111C>T	XP_016883332.1:p.Pro704Leu
XM_017027844.2:c.2069C>T	XP_016883333.1:p.Pro690Leu
XM_017027845.1:c.1142C>T	XP_016883334.1:p.Pro381Leu
NM_004518.6:c.2042C>T	NP_004509.2:p.Pro681Leu
NM_172106.3:c.2072C>T	NP_742104.1:p.Pro691Leu
NM_172107.4:c.2126C>T MANE Select	NP_742105.1:p.Pro709Leu
NM_172108.5:c.2033C>T	NP_742106.1:p.Pro678Leu
NM_001382235.1:c.2180C>T	NP_001369164.1:p.Pro727Leu