Canonical Allele Identifier: CA409639607

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038722A>C (hg19) ; chr20:g.63407369A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407369A>C , CM000682.2:g.63407369A>C	GRCh38
NC_000020.10:g.62038722A>C , CM000682.1:g.62038722A>C	GRCh37
NC_000020.9:g.61509166A>C	NCBI36
NG_009004.1:g.70272T>G
NG_009004.2:g.70272T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1948T>G	ENSP00000516702.1:p.Ser650Ala
ENST00000359125.7:c.1894T>G MANE Select	ENSP00000352035.2:p.Ser632Ala
ENST00000637193.1:c.1291T>G	ENSP00000490734.1:p.Ser431Ala
ENST00000637338.1:n.51T>G
ENST00000344462.8:c.1801T>G	ENSP00000339611.4:p.Ser601Ala
ENST00000357249.6:c.1462T>G	ENSP00000349789.3:p.Ser488Ala
ENST00000359125.6:c.1894T>G	ENSP00000352035.2:p.Ser632Ala
ENST00000360480.7:c.1810T>G	ENSP00000353668.3:p.Ser604Ala
ENST00000370224.5:c.1918T>G	ENSP00000359244.2:p.Ser640Ala
ENST00000625514.2:c.1882T>G	ENSP00000486040.1:p.Ser628Ala
ENST00000626839.2:c.1840T>G	ENSP00000486706.1:p.Ser614Ala
ENST00000629241.2:c.1810T>G	ENSP00000487142.1:p.Ser604Ala
ENST00000629676.2:c.1679+6081T>G	ENSP00000486194.1:n.1679+6081T>G
NM_004518.4:c.1810T>G	NP_004509.2:p.Ser604Ala
NM_172106.1:c.1840T>G	NP_742104.1:p.Ser614Ala
NM_172107.2:c.1894T>G	NP_742105.1:p.Ser632Ala
NM_172108.3:c.1801T>G	NP_742106.1:p.Ser601Ala
XM_006723787.1:c.1936T>G	XP_006723850.1:p.Ser646Ala
XM_011528807.1:c.2002T>G	XP_011527109.1:p.Ser668Ala
XM_011528808.1:c.1999T>G	XP_011527110.1:p.Ser667Ala
XM_011528809.1:c.1972T>G	XP_011527111.1:p.Ser658Ala
XM_011528810.1:c.1948T>G	XP_011527112.1:p.Ser650Ala
XM_011528811.1:c.1918T>G	XP_011527113.1:p.Ser640Ala
XM_011528812.1:c.1891T>G	XP_011527114.1:p.Ser631Ala
XM_011528813.1:c.1876T>G	XP_011527115.1:p.Ser626Ala
XM_011528814.1:c.1483T>G	XP_011527116.1:p.Ser495Ala
NM_004518.5:c.1810T>G	NP_004509.2:p.Ser604Ala
NM_172106.2:c.1840T>G	NP_742104.1:p.Ser614Ala
NM_172107.3:c.1894T>G	NP_742105.1:p.Ser632Ala
NM_172108.4:c.1801T>G	NP_742106.1:p.Ser601Ala
XM_011528810.2:c.1948T>G	XP_011527112.1:p.Ser650Ala
XM_011528811.2:c.1918T>G	XP_011527113.1:p.Ser640Ala
XM_017027841.2:c.1945T>G	XP_016883330.1:p.Ser649Ala
XM_017027842.2:c.1882T>G	XP_016883331.1:p.Ser628Ala
XM_017027843.1:c.1879T>G	XP_016883332.1:p.Ser627Ala
XM_017027844.2:c.1837T>G	XP_016883333.1:p.Ser613Ala
XM_017027845.1:c.910T>G	XP_016883334.1:p.Ser304Ala
NM_004518.6:c.1810T>G	NP_004509.2:p.Ser604Ala
NM_172106.3:c.1840T>G	NP_742104.1:p.Ser614Ala
NM_172107.4:c.1894T>G MANE Select	NP_742105.1:p.Ser632Ala
NM_172108.5:c.1801T>G	NP_742106.1:p.Ser601Ala
NM_001382235.1:c.1948T>G	NP_001369164.1:p.Ser650Ala