Canonical Allele Identifier: CA317421743

Gene: KCNQ2

Linked Data

• dbSNP Id: rs931372520
• gnomAD v2: 20-62038178-T-C
• gnomAD v4: 20-63406825-T-C
• MyVariant Identifiers: chr20:g.62038178T>C (hg19) ; chr20:g.63406825T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406825T>C , CM000682.2:g.63406825T>C	GRCh38
NC_000020.10:g.62038178T>C , CM000682.1:g.62038178T>C	GRCh37
NC_000020.9:g.61508622T>C	NCBI36
NG_009004.1:g.70816A>G
NG_009004.2:g.70816A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2492A>G	ENSP00000516702.1:p.Asn831Ser
ENST00000359125.7:c.2438A>G MANE Select	ENSP00000352035.2:p.Asn813Ser
ENST00000637193.1:c.1835A>G	ENSP00000490734.1:p.Asn612Ser
ENST00000344462.8:c.2345A>G	ENSP00000339611.4:p.Asn782Ser
ENST00000357249.6:c.2006A>G	ENSP00000349789.3:p.Asn669Ser
ENST00000359125.6:c.2438A>G	ENSP00000352035.2:p.Asn813Ser
ENST00000360480.7:c.2354A>G	ENSP00000353668.3:p.Asn785Ser
ENST00000370224.5:c.2241+221A>G	ENSP00000359244.2:n.2241+221A>G
ENST00000625514.2:c.2205+221A>G	ENSP00000486040.1:n.2205+221A>G
ENST00000626839.2:c.2384A>G	ENSP00000486706.1:p.Asn795Ser
ENST00000629241.2:c.2133+221A>G	ENSP00000487142.1:n.2133+221A>G
ENST00000629676.2:c.1680-5982A>G	ENSP00000486194.1:n.1680-5982A>G
NM_004518.4:c.2354A>G	NP_004509.2:p.Asn785Ser
NM_172106.1:c.2384A>G	NP_742104.1:p.Asn795Ser
NM_172107.2:c.2438A>G	NP_742105.1:p.Asn813Ser
NM_172108.3:c.2345A>G	NP_742106.1:p.Asn782Ser
XM_006723787.1:c.2480A>G	XP_006723850.1:p.Asn827Ser
XM_011528807.1:c.2546A>G	XP_011527109.1:p.Asn849Ser
XM_011528808.1:c.2543A>G	XP_011527110.1:p.Asn848Ser
XM_011528809.1:c.2516A>G	XP_011527111.1:p.Asn839Ser
XM_011528810.1:c.2492A>G	XP_011527112.1:p.Asn831Ser
XM_011528811.1:c.2462A>G	XP_011527113.1:p.Asn821Ser
XM_011528812.1:c.2435A>G	XP_011527114.1:p.Asn812Ser
XM_011528813.1:c.2420A>G	XP_011527115.1:p.Asn807Ser
XM_011528814.1:c.2027A>G	XP_011527116.1:p.Asn676Ser
NM_004518.5:c.2354A>G	NP_004509.2:p.Asn785Ser
NM_172106.2:c.2384A>G	NP_742104.1:p.Asn795Ser
NM_172107.3:c.2438A>G	NP_742105.1:p.Asn813Ser
NM_172108.4:c.2345A>G	NP_742106.1:p.Asn782Ser
XM_011528810.2:c.2492A>G	XP_011527112.1:p.Asn831Ser
XM_011528811.2:c.2462A>G	XP_011527113.1:p.Asn821Ser
XM_017027841.2:c.2489A>G	XP_016883330.1:p.Asn830Ser
XM_017027842.2:c.2426A>G	XP_016883331.1:p.Asn809Ser
XM_017027843.1:c.2423A>G	XP_016883332.1:p.Asn808Ser
XM_017027844.2:c.2381A>G	XP_016883333.1:p.Asn794Ser
XM_017027845.1:c.1454A>G	XP_016883334.1:p.Asn485Ser
NM_004518.6:c.2354A>G	NP_004509.2:p.Asn785Ser
NM_172106.3:c.2384A>G	NP_742104.1:p.Asn795Ser
NM_172107.4:c.2438A>G MANE Select	NP_742105.1:p.Asn813Ser
NM_172108.5:c.2345A>G	NP_742106.1:p.Asn782Ser
NM_001382235.1:c.2492A>G	NP_001369164.1:p.Asn831Ser