Canonical Allele Identifier: CA409639433

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038686A>G (hg19) ; chr20:g.63407333A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407333A>G , CM000682.2:g.63407333A>G	GRCh38
NC_000020.10:g.62038686A>G , CM000682.1:g.62038686A>G	GRCh37
NC_000020.9:g.61509130A>G	NCBI36
NG_009004.1:g.70308T>C
NG_009004.2:g.70308T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1984T>C	ENSP00000516702.1:p.Tyr662His
ENST00000359125.7:c.1930T>C MANE Select	ENSP00000352035.2:p.Tyr644His
ENST00000637193.1:c.1327T>C	ENSP00000490734.1:p.Tyr443His
ENST00000637338.1:n.87T>C
ENST00000344462.8:c.1837T>C	ENSP00000339611.4:p.Tyr613His
ENST00000357249.6:c.1498T>C	ENSP00000349789.3:p.Tyr500His
ENST00000359125.6:c.1930T>C	ENSP00000352035.2:p.Tyr644His
ENST00000360480.7:c.1846T>C	ENSP00000353668.3:p.Tyr616His
ENST00000370224.5:c.1954T>C	ENSP00000359244.2:p.Tyr652His
ENST00000625514.2:c.1918T>C	ENSP00000486040.1:p.Tyr640His
ENST00000626839.2:c.1876T>C	ENSP00000486706.1:p.Tyr626His
ENST00000629241.2:c.1846T>C	ENSP00000487142.1:p.Tyr616His
ENST00000629676.2:c.1679+6117T>C	ENSP00000486194.1:n.1679+6117T>C
NM_004518.4:c.1846T>C	NP_004509.2:p.Tyr616His
NM_172106.1:c.1876T>C	NP_742104.1:p.Tyr626His
NM_172107.2:c.1930T>C	NP_742105.1:p.Tyr644His
NM_172108.3:c.1837T>C	NP_742106.1:p.Tyr613His
XM_006723787.1:c.1972T>C	XP_006723850.1:p.Tyr658His
XM_011528807.1:c.2038T>C	XP_011527109.1:p.Tyr680His
XM_011528808.1:c.2035T>C	XP_011527110.1:p.Tyr679His
XM_011528809.1:c.2008T>C	XP_011527111.1:p.Tyr670His
XM_011528810.1:c.1984T>C	XP_011527112.1:p.Tyr662His
XM_011528811.1:c.1954T>C	XP_011527113.1:p.Tyr652His
XM_011528812.1:c.1927T>C	XP_011527114.1:p.Tyr643His
XM_011528813.1:c.1912T>C	XP_011527115.1:p.Tyr638His
XM_011528814.1:c.1519T>C	XP_011527116.1:p.Tyr507His
NM_004518.5:c.1846T>C	NP_004509.2:p.Tyr616His
NM_172106.2:c.1876T>C	NP_742104.1:p.Tyr626His
NM_172107.3:c.1930T>C	NP_742105.1:p.Tyr644His
NM_172108.4:c.1837T>C	NP_742106.1:p.Tyr613His
XM_011528810.2:c.1984T>C	XP_011527112.1:p.Tyr662His
XM_011528811.2:c.1954T>C	XP_011527113.1:p.Tyr652His
XM_017027841.2:c.1981T>C	XP_016883330.1:p.Tyr661His
XM_017027842.2:c.1918T>C	XP_016883331.1:p.Tyr640His
XM_017027843.1:c.1915T>C	XP_016883332.1:p.Tyr639His
XM_017027844.2:c.1873T>C	XP_016883333.1:p.Tyr625His
XM_017027845.1:c.946T>C	XP_016883334.1:p.Tyr316His
NM_004518.6:c.1846T>C	NP_004509.2:p.Tyr616His
NM_172106.3:c.1876T>C	NP_742104.1:p.Tyr626His
NM_172107.4:c.1930T>C MANE Select	NP_742105.1:p.Tyr644His
NM_172108.5:c.1837T>C	NP_742106.1:p.Tyr613His
NM_001382235.1:c.1984T>C	NP_001369164.1:p.Tyr662His