Canonical Allele Identifier: CA409639303

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038644A>T (hg19) ; chr20:g.63407291A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407291A>T , CM000682.2:g.63407291A>T	GRCh38
NC_000020.10:g.62038644A>T , CM000682.1:g.62038644A>T	GRCh37
NC_000020.9:g.61509088A>T	NCBI36
NG_009004.1:g.70350T>A
NG_009004.2:g.70350T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2026T>A	ENSP00000516702.1:p.Tyr676Asn
ENST00000359125.7:c.1972T>A MANE Select	ENSP00000352035.2:p.Tyr658Asn
ENST00000637193.1:c.1369T>A	ENSP00000490734.1:p.Tyr457Asn
ENST00000344462.8:c.1879T>A	ENSP00000339611.4:p.Tyr627Asn
ENST00000357249.6:c.1540T>A	ENSP00000349789.3:p.Tyr514Asn
ENST00000359125.6:c.1972T>A	ENSP00000352035.2:p.Tyr658Asn
ENST00000360480.7:c.1888T>A	ENSP00000353668.3:p.Tyr630Asn
ENST00000370224.5:c.1996T>A	ENSP00000359244.2:p.Tyr666Asn
ENST00000625514.2:c.1960T>A	ENSP00000486040.1:p.Tyr654Asn
ENST00000626839.2:c.1918T>A	ENSP00000486706.1:p.Tyr640Asn
ENST00000629241.2:c.1888T>A	ENSP00000487142.1:p.Tyr630Asn
ENST00000629676.2:c.1679+6159T>A	ENSP00000486194.1:n.1679+6159T>A
NM_004518.4:c.1888T>A	NP_004509.2:p.Tyr630Asn
NM_172106.1:c.1918T>A	NP_742104.1:p.Tyr640Asn
NM_172107.2:c.1972T>A	NP_742105.1:p.Tyr658Asn
NM_172108.3:c.1879T>A	NP_742106.1:p.Tyr627Asn
XM_006723787.1:c.2014T>A	XP_006723850.1:p.Tyr672Asn
XM_011528807.1:c.2080T>A	XP_011527109.1:p.Tyr694Asn
XM_011528808.1:c.2077T>A	XP_011527110.1:p.Tyr693Asn
XM_011528809.1:c.2050T>A	XP_011527111.1:p.Tyr684Asn
XM_011528810.1:c.2026T>A	XP_011527112.1:p.Tyr676Asn
XM_011528811.1:c.1996T>A	XP_011527113.1:p.Tyr666Asn
XM_011528812.1:c.1969T>A	XP_011527114.1:p.Tyr657Asn
XM_011528813.1:c.1954T>A	XP_011527115.1:p.Tyr652Asn
XM_011528814.1:c.1561T>A	XP_011527116.1:p.Tyr521Asn
NM_004518.5:c.1888T>A	NP_004509.2:p.Tyr630Asn
NM_172106.2:c.1918T>A	NP_742104.1:p.Tyr640Asn
NM_172107.3:c.1972T>A	NP_742105.1:p.Tyr658Asn
NM_172108.4:c.1879T>A	NP_742106.1:p.Tyr627Asn
XM_011528810.2:c.2026T>A	XP_011527112.1:p.Tyr676Asn
XM_011528811.2:c.1996T>A	XP_011527113.1:p.Tyr666Asn
XM_017027841.2:c.2023T>A	XP_016883330.1:p.Tyr675Asn
XM_017027842.2:c.1960T>A	XP_016883331.1:p.Tyr654Asn
XM_017027843.1:c.1957T>A	XP_016883332.1:p.Tyr653Asn
XM_017027844.2:c.1915T>A	XP_016883333.1:p.Tyr639Asn
XM_017027845.1:c.988T>A	XP_016883334.1:p.Tyr330Asn
NM_004518.6:c.1888T>A	NP_004509.2:p.Tyr630Asn
NM_172106.3:c.1918T>A	NP_742104.1:p.Tyr640Asn
NM_172107.4:c.1972T>A MANE Select	NP_742105.1:p.Tyr658Asn
NM_172108.5:c.1879T>A	NP_742106.1:p.Tyr627Asn
NM_001382235.1:c.2026T>A	NP_001369164.1:p.Tyr676Asn