Canonical Allele Identifier: CA2509052926

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63431300_63431359del , CM000682.2:g.63431300_63431359del	GRCh38
NC_000020.10:g.62062653_62062712del , CM000682.1:g.62062653_62062712del	GRCh37
NC_000020.9:g.61533097_61533156del	NCBI36
NG_009004.1:g.46282_46341del
NG_009004.2:g.46282_46341del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1129_1148+40del
ENST00000359125.7:c.1129_1148+40del
ENST00000636638.1:n.31+2087_31+2146del
ENST00000637193.1:c.599+2450_599+2509del	ENSP00000490734.1:n.599+2450_599+2509del
ENST00000344462.8:c.1129_1148+40del
ENST00000357249.6:c.787_806+40del
ENST00000359125.6:c.1129_1148+40del
ENST00000360480.7:c.1118+2450_1118+2509del	ENSP00000353668.3:n.1118+2450_1118+2509de...
ENST00000370221.3:n.1255_1274+40del
ENST00000370224.5:c.1118+2450_1118+2509del	ENSP00000359244.2:n.1118+2450_1118+2509de...
ENST00000625514.2:c.1118+2450_1118+2509del	ENSP00000486040.1:n.1118+2450_1118+2509de...
ENST00000626839.2:c.1129_1148+40del
ENST00000627221.2:c.262+2450_262+2509del
ENST00000629241.2:c.1118+2450_1118+2509del	ENSP00000487142.1:n.1118+2450_1118+2509de...
ENST00000629676.2:c.1118+2450_1118+2509del	ENSP00000486194.1:n.1118+2450_1118+2509de...
NM_004518.4:c.1118+2450_1118+2509del	NP_004509.2:n.1118+2450_1118+2509del
NM_172106.1:c.1129_1148+40del
NM_172107.2:c.1129_1148+40del
NM_172108.3:c.1129_1148+40del
XM_006723787.1:c.1129_1148+40del
XM_011528807.1:c.1129_1148+40del
XM_011528808.1:c.1129_1148+40del
XM_011528809.1:c.1118+2450_1118+2509del	XP_011527111.1:n.1118+2450_1118+2509del
XM_011528810.1:c.1129_1148+40del
XM_011528811.1:c.1118+2450_1118+2509del	XP_011527113.1:n.1118+2450_1118+2509del
XM_011528812.1:c.1129_1148+40del
XM_011528813.1:c.1003_1022+40del
XM_011528814.1:c.610_629+40del
XM_011528815.1:c.1129_1148+40del
NM_004518.5:c.1118+2450_1118+2509del	NP_004509.2:n.1118+2450_1118+2509del
NM_172106.2:c.1129_1148+40del
NM_172107.3:c.1129_1148+40del
NM_172108.4:c.1129_1148+40del
XM_011528810.2:c.1129_1148+40del
XM_011528811.2:c.1118+2450_1118+2509del	XP_011527113.1:n.1118+2450_1118+2509del
XM_017027841.2:c.1129_1148+40del
XM_017027842.2:c.1129_1148+40del
XM_017027843.1:c.1060_1079+40del
XM_017027844.2:c.1129_1148+40del
NM_004518.6:c.1118+2450_1118+2509del	NP_004509.2:n.1118+2450_1118+2509del
NM_172106.3:c.1129_1148+40del
NM_172107.4:c.1129_1148+40del
NM_172108.5:c.1129_1148+40del
NM_001382235.1:c.1129_1148+40del