Canonical Allele Identifier: CA409639342

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038662G>A (hg19) ; chr20:g.63407309G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407309G>A , CM000682.2:g.63407309G>A	GRCh38
NC_000020.10:g.62038662G>A , CM000682.1:g.62038662G>A	GRCh37
NC_000020.9:g.61509106G>A	NCBI36
NG_009004.1:g.70332C>T
NG_009004.2:g.70332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2008C>T	ENSP00000516702.1:p.Pro670Ser
ENST00000359125.7:c.1954C>T MANE Select	ENSP00000352035.2:p.Pro652Ser
ENST00000637193.1:c.1351C>T	ENSP00000490734.1:p.Pro451Ser
ENST00000344462.8:c.1861C>T	ENSP00000339611.4:p.Pro621Ser
ENST00000357249.6:c.1522C>T	ENSP00000349789.3:p.Pro508Ser
ENST00000359125.6:c.1954C>T	ENSP00000352035.2:p.Pro652Ser
ENST00000360480.7:c.1870C>T	ENSP00000353668.3:p.Pro624Ser
ENST00000370224.5:c.1978C>T	ENSP00000359244.2:p.Pro660Ser
ENST00000625514.2:c.1942C>T	ENSP00000486040.1:p.Pro648Ser
ENST00000626839.2:c.1900C>T	ENSP00000486706.1:p.Pro634Ser
ENST00000629241.2:c.1870C>T	ENSP00000487142.1:p.Pro624Ser
ENST00000629676.2:c.1679+6141C>T	ENSP00000486194.1:n.1679+6141C>T
NM_004518.4:c.1870C>T	NP_004509.2:p.Pro624Ser
NM_172106.1:c.1900C>T	NP_742104.1:p.Pro634Ser
NM_172107.2:c.1954C>T	NP_742105.1:p.Pro652Ser
NM_172108.3:c.1861C>T	NP_742106.1:p.Pro621Ser
XM_006723787.1:c.1996C>T	XP_006723850.1:p.Pro666Ser
XM_011528807.1:c.2062C>T	XP_011527109.1:p.Pro688Ser
XM_011528808.1:c.2059C>T	XP_011527110.1:p.Pro687Ser
XM_011528809.1:c.2032C>T	XP_011527111.1:p.Pro678Ser
XM_011528810.1:c.2008C>T	XP_011527112.1:p.Pro670Ser
XM_011528811.1:c.1978C>T	XP_011527113.1:p.Pro660Ser
XM_011528812.1:c.1951C>T	XP_011527114.1:p.Pro651Ser
XM_011528813.1:c.1936C>T	XP_011527115.1:p.Pro646Ser
XM_011528814.1:c.1543C>T	XP_011527116.1:p.Pro515Ser
NM_004518.5:c.1870C>T	NP_004509.2:p.Pro624Ser
NM_172106.2:c.1900C>T	NP_742104.1:p.Pro634Ser
NM_172107.3:c.1954C>T	NP_742105.1:p.Pro652Ser
NM_172108.4:c.1861C>T	NP_742106.1:p.Pro621Ser
XM_011528810.2:c.2008C>T	XP_011527112.1:p.Pro670Ser
XM_011528811.2:c.1978C>T	XP_011527113.1:p.Pro660Ser
XM_017027841.2:c.2005C>T	XP_016883330.1:p.Pro669Ser
XM_017027842.2:c.1942C>T	XP_016883331.1:p.Pro648Ser
XM_017027843.1:c.1939C>T	XP_016883332.1:p.Pro647Ser
XM_017027844.2:c.1897C>T	XP_016883333.1:p.Pro633Ser
XM_017027845.1:c.970C>T	XP_016883334.1:p.Pro324Ser
NM_004518.6:c.1870C>T	NP_004509.2:p.Pro624Ser
NM_172106.3:c.1900C>T	NP_742104.1:p.Pro634Ser
NM_172107.4:c.1954C>T MANE Select	NP_742105.1:p.Pro652Ser
NM_172108.5:c.1861C>T	NP_742106.1:p.Pro621Ser
NM_001382235.1:c.2008C>T	NP_001369164.1:p.Pro670Ser