Canonical Allele Identifier: CA409639288

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038642G>C (hg19) ; chr20:g.63407289G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407289G>C , CM000682.2:g.63407289G>C	GRCh38
NC_000020.10:g.62038642G>C , CM000682.1:g.62038642G>C	GRCh37
NC_000020.9:g.61509086G>C	NCBI36
NG_009004.1:g.70352C>G
NG_009004.2:g.70352C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2028C>G	ENSP00000516702.1:p.Tyr676Ter
ENST00000359125.7:c.1974C>G MANE Select	ENSP00000352035.2:p.Tyr658Ter
ENST00000637193.1:c.1371C>G	ENSP00000490734.1:p.Tyr457Ter
ENST00000344462.8:c.1881C>G	ENSP00000339611.4:p.Tyr627Ter
ENST00000357249.6:c.1542C>G	ENSP00000349789.3:p.Tyr514Ter
ENST00000359125.6:c.1974C>G	ENSP00000352035.2:p.Tyr658Ter
ENST00000360480.7:c.1890C>G	ENSP00000353668.3:p.Tyr630Ter
ENST00000370224.5:c.1998C>G	ENSP00000359244.2:p.Tyr666Ter
ENST00000625514.2:c.1962C>G	ENSP00000486040.1:p.Tyr654Ter
ENST00000626839.2:c.1920C>G	ENSP00000486706.1:p.Tyr640Ter
ENST00000629241.2:c.1890C>G	ENSP00000487142.1:p.Tyr630Ter
ENST00000629676.2:c.1679+6161C>G	ENSP00000486194.1:n.1679+6161C>G
NM_004518.4:c.1890C>G	NP_004509.2:p.Tyr630Ter
NM_172106.1:c.1920C>G	NP_742104.1:p.Tyr640Ter
NM_172107.2:c.1974C>G	NP_742105.1:p.Tyr658Ter
NM_172108.3:c.1881C>G	NP_742106.1:p.Tyr627Ter
XM_006723787.1:c.2016C>G	XP_006723850.1:p.Tyr672Ter
XM_011528807.1:c.2082C>G	XP_011527109.1:p.Tyr694Ter
XM_011528808.1:c.2079C>G	XP_011527110.1:p.Tyr693Ter
XM_011528809.1:c.2052C>G	XP_011527111.1:p.Tyr684Ter
XM_011528810.1:c.2028C>G	XP_011527112.1:p.Tyr676Ter
XM_011528811.1:c.1998C>G	XP_011527113.1:p.Tyr666Ter
XM_011528812.1:c.1971C>G	XP_011527114.1:p.Tyr657Ter
XM_011528813.1:c.1956C>G	XP_011527115.1:p.Tyr652Ter
XM_011528814.1:c.1563C>G	XP_011527116.1:p.Tyr521Ter
NM_004518.5:c.1890C>G	NP_004509.2:p.Tyr630Ter
NM_172106.2:c.1920C>G	NP_742104.1:p.Tyr640Ter
NM_172107.3:c.1974C>G	NP_742105.1:p.Tyr658Ter
NM_172108.4:c.1881C>G	NP_742106.1:p.Tyr627Ter
XM_011528810.2:c.2028C>G	XP_011527112.1:p.Tyr676Ter
XM_011528811.2:c.1998C>G	XP_011527113.1:p.Tyr666Ter
XM_017027841.2:c.2025C>G	XP_016883330.1:p.Tyr675Ter
XM_017027842.2:c.1962C>G	XP_016883331.1:p.Tyr654Ter
XM_017027843.1:c.1959C>G	XP_016883332.1:p.Tyr653Ter
XM_017027844.2:c.1917C>G	XP_016883333.1:p.Tyr639Ter
XM_017027845.1:c.990C>G	XP_016883334.1:p.Tyr330Ter
NM_004518.6:c.1890C>G	NP_004509.2:p.Tyr630Ter
NM_172106.3:c.1920C>G	NP_742104.1:p.Tyr640Ter
NM_172107.4:c.1974C>G MANE Select	NP_742105.1:p.Tyr658Ter
NM_172108.5:c.1881C>G	NP_742106.1:p.Tyr627Ter
NM_001382235.1:c.2028C>G	NP_001369164.1:p.Tyr676Ter