Canonical Allele Identifier: CA409640234
Community Standard Title: NM_172107.4(KCNQ2):c.1870G>T (p.Gly624Trp)
Gene: KCNQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63408430C>A , CM000682.2:g.63408430C>A GRCh38
NC_000020.10:g.62039783C>A , CM000682.1:g.62039783C>A GRCh37
NC_000020.9:g.61510227C>A NCBI36
NG_009004.1:g.69211G>T
NG_009004.2:g.69211G>T

Transcript Alleles

HGVS Amino-acid Change
NM_172107.4:c.1870G>T MANE Select NP_742105.1:p.Gly624Trp
ENST00000359125.7:c.1870G>T MANE Select ENSP00000352035.2:p.Gly624Trp
NM_001382235.1:c.1924G>T NP_001369164.1:p.Gly642Trp
NM_004518.4:c.1786G>T NP_004509.2:p.Gly596Trp
NM_004518.5:c.1786G>T NP_004509.2:p.Gly596Trp
NM_004518.6:c.1786G>T NP_004509.2:p.Gly596Trp
NM_172106.1:c.1816G>T NP_742104.1:p.Gly606Trp
NM_172106.2:c.1816G>T NP_742104.1:p.Gly606Trp
NM_172106.3:c.1816G>T NP_742104.1:p.Gly606Trp
NM_172107.2:c.1870G>T NP_742105.1:p.Gly624Trp
NM_172107.3:c.1870G>T NP_742105.1:p.Gly624Trp
NM_172108.3:c.1777G>T NP_742106.1:p.Gly593Trp
NM_172108.4:c.1777G>T NP_742106.1:p.Gly593Trp
NM_172108.5:c.1777G>T NP_742106.1:p.Gly593Trp
ENST00000344462.8:c.1777G>T ENSP00000339611.4:p.Gly593Trp
ENST00000357249.6:c.1438G>T ENSP00000349789.3:p.Gly480Trp
ENST00000359125.6:c.1870G>T ENSP00000352035.2:p.Gly624Trp
ENST00000360480.7:c.1786G>T ENSP00000353668.3:p.Gly596Trp
ENST00000370224.5:c.1894G>T ENSP00000359244.2:p.Gly632Trp
ENST00000625514.2:c.1858G>T ENSP00000486040.1:p.Gly620Trp
ENST00000626839.2:c.1816G>T ENSP00000486706.1:p.Gly606Trp
ENST00000629241.2:c.1786G>T ENSP00000487142.1:p.Gly596Trp
ENST00000629676.2:c.1679+5020G>T ENSP00000486194.1:n.1679+5020G>T
ENST00000637063.1:n.55G>T
ENST00000637193.1:c.1267G>T ENSP00000490734.1:p.Gly423Trp
ENST00000637656.1:n.26G>T
ENST00000706989.1:c.1924G>T ENSP00000516702.1:p.Gly642Trp
XM_006723787.1:c.1912G>T XP_006723850.1:p.Gly638Trp
XM_011528807.1:c.1978G>T XP_011527109.1:p.Gly660Trp
XM_011528808.1:c.1975G>T XP_011527110.1:p.Gly659Trp
XM_011528809.1:c.1948G>T XP_011527111.1:p.Gly650Trp
XM_011528810.1:c.1924G>T XP_011527112.1:p.Gly642Trp
XM_011528810.2:c.1924G>T XP_011527112.1:p.Gly642Trp
XM_011528811.1:c.1894G>T XP_011527113.1:p.Gly632Trp
XM_011528811.2:c.1894G>T XP_011527113.1:p.Gly632Trp
XM_011528812.1:c.1867G>T XP_011527114.1:p.Gly623Trp
XM_011528813.1:c.1852G>T XP_011527115.1:p.Gly618Trp
XM_011528814.1:c.1459G>T XP_011527116.1:p.Gly487Trp
XM_011528815.1:c.1978G>T XP_011527117.1:p.Gly660Trp
XM_017027841.2:c.1921G>T XP_016883330.1:p.Gly641Trp
XM_017027842.2:c.1858G>T XP_016883331.1:p.Gly620Trp
XM_017027843.1:c.1855G>T XP_016883332.1:p.Gly619Trp
XM_017027844.2:c.1813G>T XP_016883333.1:p.Gly605Trp
XM_017027845.1:c.886G>T XP_016883334.1:p.Gly296Trp