Canonical Allele Identifier: CA2695230053

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63472168_63472169del , CM000682.2:g.63472168_63472169del	GRCh38
NC_000020.10:g.62103521_62103522del , CM000682.1:g.62103521_62103522del	GRCh37
NC_000020.9:g.61573965_61573966del	NCBI36
NG_009004.1:g.5475_5476del
NG_009004.2:g.5475_5476del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.296+2_296+3del
ENST00000344425.8:c.296+2_296+3del
ENST00000359125.7:c.296+2_296+3del
ENST00000637573.1:n.65+2_65+3del
ENST00000344425.7:c.296+2_296+3del
ENST00000344462.8:c.296+2_296+3del
ENST00000359125.6:c.296+2_296+3del
ENST00000360480.7:c.296+2_296+3del
ENST00000370221.3:n.422+2_422+3del
ENST00000370224.5:c.296+2_296+3del
ENST00000625514.2:c.296+2_296+3del
ENST00000626839.2:c.296+2_296+3del
ENST00000629241.2:c.296+2_296+3del
ENST00000629676.2:c.296+2_296+3del
NM_004518.4:c.296+2_296+3del
NM_172106.1:c.296+2_296+3del
NM_172107.2:c.296+2_296+3del
NM_172108.3:c.296+2_296+3del
NM_172109.1:c.296+2_296+3del
XM_006723787.1:c.296+2_296+3del
XM_011528807.1:c.296+2_296+3del
XM_011528808.1:c.296+2_296+3del
XM_011528809.1:c.296+2_296+3del
XM_011528810.1:c.296+2_296+3del
XM_011528811.1:c.296+2_296+3del
XM_011528812.1:c.296+2_296+3del
XM_011528813.1:c.296+2_296+3del
XM_011528815.1:c.296+2_296+3del
XM_011528816.1:c.296+2_296+3del
NM_004518.5:c.296+2_296+3del
NM_172106.2:c.296+2_296+3del
NM_172107.3:c.296+2_296+3del
NM_172108.4:c.296+2_296+3del
NM_172109.2:c.296+2_296+3del
XM_011528810.2:c.296+2_296+3del
XM_011528811.2:c.296+2_296+3del
XM_017027841.2:c.296+2_296+3del
XM_017027842.2:c.296+2_296+3del
XM_017027844.2:c.296+2_296+3del
NM_004518.6:c.296+2_296+3del
NM_172106.3:c.296+2_296+3del
NM_172107.4:c.296+2_296+3del
NM_172108.5:c.296+2_296+3del
NM_172109.3:c.296+2_296+3del
NM_001382235.1:c.296+2_296+3del