Canonical Allele Identifier: CA409637592

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038265C>G (hg19) ; chr20:g.63406912C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406912C>G , CM000682.2:g.63406912C>G	GRCh38
NC_000020.10:g.62038265C>G , CM000682.1:g.62038265C>G	GRCh37
NC_000020.9:g.61508709C>G	NCBI36
NG_009004.1:g.70729G>C
NG_009004.2:g.70729G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2405G>C	ENSP00000516702.1:p.Ser802Thr
ENST00000359125.7:c.2351G>C MANE Select	ENSP00000352035.2:p.Ser784Thr
ENST00000637193.1:c.1748G>C	ENSP00000490734.1:p.Ser583Thr
ENST00000344462.8:c.2258G>C	ENSP00000339611.4:p.Ser753Thr
ENST00000357249.6:c.1919G>C	ENSP00000349789.3:p.Ser640Thr
ENST00000359125.6:c.2351G>C	ENSP00000352035.2:p.Ser784Thr
ENST00000360480.7:c.2267G>C	ENSP00000353668.3:p.Ser756Thr
ENST00000370224.5:c.2241+134G>C	ENSP00000359244.2:n.2241+134G>C
ENST00000625514.2:c.2205+134G>C	ENSP00000486040.1:n.2205+134G>C
ENST00000626839.2:c.2297G>C	ENSP00000486706.1:p.Ser766Thr
ENST00000629241.2:c.2133+134G>C	ENSP00000487142.1:n.2133+134G>C
ENST00000629676.2:c.1680-6069G>C	ENSP00000486194.1:n.1680-6069G>C
NM_004518.4:c.2267G>C	NP_004509.2:p.Ser756Thr
NM_172106.1:c.2297G>C	NP_742104.1:p.Ser766Thr
NM_172107.2:c.2351G>C	NP_742105.1:p.Ser784Thr
NM_172108.3:c.2258G>C	NP_742106.1:p.Ser753Thr
XM_006723787.1:c.2393G>C	XP_006723850.1:p.Ser798Thr
XM_011528807.1:c.2459G>C	XP_011527109.1:p.Ser820Thr
XM_011528808.1:c.2456G>C	XP_011527110.1:p.Ser819Thr
XM_011528809.1:c.2429G>C	XP_011527111.1:p.Ser810Thr
XM_011528810.1:c.2405G>C	XP_011527112.1:p.Ser802Thr
XM_011528811.1:c.2375G>C	XP_011527113.1:p.Ser792Thr
XM_011528812.1:c.2348G>C	XP_011527114.1:p.Ser783Thr
XM_011528813.1:c.2333G>C	XP_011527115.1:p.Ser778Thr
XM_011528814.1:c.1940G>C	XP_011527116.1:p.Ser647Thr
NM_004518.5:c.2267G>C	NP_004509.2:p.Ser756Thr
NM_172106.2:c.2297G>C	NP_742104.1:p.Ser766Thr
NM_172107.3:c.2351G>C	NP_742105.1:p.Ser784Thr
NM_172108.4:c.2258G>C	NP_742106.1:p.Ser753Thr
XM_011528810.2:c.2405G>C	XP_011527112.1:p.Ser802Thr
XM_011528811.2:c.2375G>C	XP_011527113.1:p.Ser792Thr
XM_017027841.2:c.2402G>C	XP_016883330.1:p.Ser801Thr
XM_017027842.2:c.2339G>C	XP_016883331.1:p.Ser780Thr
XM_017027843.1:c.2336G>C	XP_016883332.1:p.Ser779Thr
XM_017027844.2:c.2294G>C	XP_016883333.1:p.Ser765Thr
XM_017027845.1:c.1367G>C	XP_016883334.1:p.Ser456Thr
NM_004518.6:c.2267G>C	NP_004509.2:p.Ser756Thr
NM_172106.3:c.2297G>C	NP_742104.1:p.Ser766Thr
NM_172107.4:c.2351G>C MANE Select	NP_742105.1:p.Ser784Thr
NM_172108.5:c.2258G>C	NP_742106.1:p.Ser753Thr
NM_001382235.1:c.2405G>C	NP_001369164.1:p.Ser802Thr