Canonical Allele Identifier: CA409636407

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038022A>G (hg19) ; chr20:g.63406669A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406669A>G , CM000682.2:g.63406669A>G	GRCh38
NC_000020.10:g.62038022A>G , CM000682.1:g.62038022A>G	GRCh37
NC_000020.9:g.61508466A>G	NCBI36
NG_009004.1:g.70972T>C
NG_009004.2:g.70972T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2648T>C	ENSP00000516702.1:p.Val883Ala
ENST00000359125.7:c.2594T>C MANE Select	ENSP00000352035.2:p.Val865Ala
ENST00000637193.1:c.1991T>C	ENSP00000490734.1:p.Val664Ala
ENST00000344462.8:c.2501T>C	ENSP00000339611.4:p.Val834Ala
ENST00000357249.6:c.2162T>C	ENSP00000349789.3:p.Val721Ala
ENST00000359125.6:c.2594T>C	ENSP00000352035.2:p.Val865Ala
ENST00000360480.7:c.2510T>C	ENSP00000353668.3:p.Val837Ala
ENST00000370224.5:c.2241+377T>C	ENSP00000359244.2:n.2241+377T>C
ENST00000625514.2:c.2205+377T>C	ENSP00000486040.1:n.2205+377T>C
ENST00000626839.2:c.2540T>C	ENSP00000486706.1:p.Val847Ala
ENST00000629241.2:c.2133+377T>C	ENSP00000487142.1:n.2133+377T>C
ENST00000629676.2:c.1680-5826T>C	ENSP00000486194.1:n.1680-5826T>C
NM_004518.4:c.2510T>C	NP_004509.2:p.Val837Ala
NM_172106.1:c.2540T>C	NP_742104.1:p.Val847Ala
NM_172107.2:c.2594T>C	NP_742105.1:p.Val865Ala
NM_172108.3:c.2501T>C	NP_742106.1:p.Val834Ala
XM_006723787.1:c.2636T>C	XP_006723850.1:p.Val879Ala
XM_011528807.1:c.2702T>C	XP_011527109.1:p.Val901Ala
XM_011528808.1:c.2699T>C	XP_011527110.1:p.Val900Ala
XM_011528809.1:c.2672T>C	XP_011527111.1:p.Val891Ala
XM_011528810.1:c.2648T>C	XP_011527112.1:p.Val883Ala
XM_011528811.1:c.2618T>C	XP_011527113.1:p.Val873Ala
XM_011528812.1:c.2591T>C	XP_011527114.1:p.Val864Ala
XM_011528813.1:c.2576T>C	XP_011527115.1:p.Val859Ala
XM_011528814.1:c.2183T>C	XP_011527116.1:p.Val728Ala
NM_004518.5:c.2510T>C	NP_004509.2:p.Val837Ala
NM_172106.2:c.2540T>C	NP_742104.1:p.Val847Ala
NM_172107.3:c.2594T>C	NP_742105.1:p.Val865Ala
NM_172108.4:c.2501T>C	NP_742106.1:p.Val834Ala
XM_011528810.2:c.2648T>C	XP_011527112.1:p.Val883Ala
XM_011528811.2:c.2618T>C	XP_011527113.1:p.Val873Ala
XM_017027841.2:c.2645T>C	XP_016883330.1:p.Val882Ala
XM_017027842.2:c.2582T>C	XP_016883331.1:p.Val861Ala
XM_017027843.1:c.2579T>C	XP_016883332.1:p.Val860Ala
XM_017027844.2:c.2537T>C	XP_016883333.1:p.Val846Ala
XM_017027845.1:c.1610T>C	XP_016883334.1:p.Val537Ala
NM_004518.6:c.2510T>C	NP_004509.2:p.Val837Ala
NM_172106.3:c.2540T>C	NP_742104.1:p.Val847Ala
NM_172107.4:c.2594T>C MANE Select	NP_742105.1:p.Val865Ala
NM_172108.5:c.2501T>C	NP_742106.1:p.Val834Ala
NM_001382235.1:c.2648T>C	NP_001369164.1:p.Val883Ala