Canonical Allele Identifier: CA636341856

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1412081146
• gnomAD v2: 20-62046713-AGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGG-A
• gnomAD v3: 20-63415360-AGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGG-A
• gnomAD v4: 20-63415360-AGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGG-A
• MyVariant Identifiers: chr20:g.62046714_62046753del (hg19) ; chr20:g.63415361_63415400del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415369_63415408del , CM000682.2:g.63415369_63415408del	GRCh38
NC_000020.10:g.62046722_62046761del , CM000682.1:g.62046722_62046761del	GRCh37
NC_000020.9:g.61517166_61517205del	NCBI36
NG_009004.1:g.62241_62280del
NG_009004.2:g.62241_62280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1248-274_1248-235del	ENSP00000516702.1:n.1248-274_1248-235del
ENST00000359125.7:c.1302-274_1302-235del MANE Select	ENSP00000352035.2:n.1302-274_1302-235del
ENST00000637193.1:c.699-274_699-235del	ENSP00000490734.1:n.699-274_699-235del
ENST00000637584.1:n.75-310_75-271del
ENST00000344462.8:c.1248-310_1248-271del	ENSP00000339611.4:n.1248-310_1248-271del
ENST00000357249.6:c.906-310_906-271del	ENSP00000349789.3:n.906-310_906-271del
ENST00000359125.6:c.1302-274_1302-235del	ENSP00000352035.2:n.1302-274_1302-235del
ENST00000360480.7:c.1218-274_1218-235del	ENSP00000353668.3:n.1218-274_1218-235del
ENST00000370224.5:c.1218-274_1218-235del	ENSP00000359244.2:n.1218-274_1218-235del
ENST00000625514.2:c.1218-310_1218-271del	ENSP00000486040.1:n.1218-310_1218-271del
ENST00000626839.2:c.1248-274_1248-235del	ENSP00000486706.1:n.1248-274_1248-235del
ENST00000627221.2:c.362-274_362-235del
ENST00000629241.2:c.1218-274_1218-235del	ENSP00000487142.1:n.1218-274_1218-235del
ENST00000629676.2:c.1218-274_1218-235del	ENSP00000486194.1:n.1218-274_1218-235del
NM_004518.4:c.1218-274_1218-235del	NP_004509.2:n.1218-274_1218-235del
NM_172106.1:c.1248-274_1248-235del	NP_742104.1:n.1248-274_1248-235del
NM_172107.2:c.1302-274_1302-235del	NP_742105.1:n.1302-274_1302-235del
NM_172108.3:c.1248-310_1248-271del	NP_742106.1:n.1248-310_1248-271del
XM_006723787.1:c.1302-274_1302-235del	XP_006723850.1:n.1302-274_1302-235del
XM_011528807.1:c.1302-274_1302-235del	XP_011527109.1:n.1302-274_1302-235del
XM_011528808.1:c.1302-274_1302-235del	XP_011527110.1:n.1302-274_1302-235del
XM_011528809.1:c.1272-274_1272-235del	XP_011527111.1:n.1272-274_1272-235del
XM_011528810.1:c.1248-274_1248-235del	XP_011527112.1:n.1248-274_1248-235del
XM_011528811.1:c.1218-274_1218-235del	XP_011527113.1:n.1218-274_1218-235del
XM_011528812.1:c.1302-274_1302-235del	XP_011527114.1:n.1302-274_1302-235del
XM_011528813.1:c.1176-274_1176-235del	XP_011527115.1:n.1176-274_1176-235del
XM_011528814.1:c.783-274_783-235del	XP_011527116.1:n.783-274_783-235del
XM_011528815.1:c.1302-274_1302-235del	XP_011527117.1:n.1302-274_1302-235del
NM_004518.5:c.1218-274_1218-235del	NP_004509.2:n.1218-274_1218-235del
NM_172106.2:c.1248-274_1248-235del	NP_742104.1:n.1248-274_1248-235del
NM_172107.3:c.1302-274_1302-235del	NP_742105.1:n.1302-274_1302-235del
NM_172108.4:c.1248-310_1248-271del	NP_742106.1:n.1248-310_1248-271del
XM_011528810.2:c.1248-274_1248-235del	XP_011527112.1:n.1248-274_1248-235del
XM_011528811.2:c.1218-274_1218-235del	XP_011527113.1:n.1218-274_1218-235del
XM_017027841.2:c.1248-274_1248-235del	XP_016883330.1:n.1248-274_1248-235del
XM_017027842.2:c.1248-274_1248-235del	XP_016883331.1:n.1248-274_1248-235del
XM_017027843.1:c.1179-274_1179-235del	XP_016883332.1:n.1179-274_1179-235del
XM_017027844.2:c.1248-274_1248-235del	XP_016883333.1:n.1248-274_1248-235del
XM_017027845.1:c.210-274_210-235del	XP_016883334.1:n.210-274_210-235del
NM_004518.6:c.1218-274_1218-235del	NP_004509.2:n.1218-274_1218-235del
NM_172106.3:c.1248-274_1248-235del	NP_742104.1:n.1248-274_1248-235del
NM_172107.4:c.1302-274_1302-235del MANE Select	NP_742105.1:n.1302-274_1302-235del
NM_172108.5:c.1248-310_1248-271del	NP_742106.1:n.1248-310_1248-271del
NM_001382235.1:c.1248-274_1248-235del	NP_001369164.1:n.1248-274_1248-235del