Canonical Allele Identifier: CA2374774438

Gene: KCNQ2

Linked Data

• dbSNP Id: rs2079969024

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407145_63407156del , CM000682.2:g.63407145_63407156del	GRCh38
NC_000020.10:g.62038498_62038509del , CM000682.1:g.62038498_62038509del	GRCh37
NC_000020.9:g.61508942_61508953del	NCBI36
NG_009004.1:g.70493_70504del
NG_009004.2:g.70493_70504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2169_2180del	ENSP00000516702.1:p.Ala724_Pro727del
ENST00000359125.7:c.2115_2126del MANE Select	ENSP00000352035.2:p.Ala706_Pro709del
ENST00000637193.1:c.1512_1523del	ENSP00000490734.1:p.Ala505_Pro508del
ENST00000344462.8:c.2022_2033del	ENSP00000339611.4:p.Ala675_Pro678del
ENST00000357249.6:c.1683_1694del	ENSP00000349789.3:p.Ala562_Pro565del
ENST00000359125.6:c.2115_2126del	ENSP00000352035.2:p.Ala706_Pro709del
ENST00000360480.7:c.2031_2042del	ENSP00000353668.3:p.Ala678_Pro681del
ENST00000370224.5:c.2139_2150del	ENSP00000359244.2:p.Ala714_Pro717del
ENST00000625514.2:c.2103_2114del	ENSP00000486040.1:p.Ala702_Pro705del
ENST00000626839.2:c.2061_2072del	ENSP00000486706.1:p.Ala688_Pro691del
ENST00000629241.2:c.2031_2042del	ENSP00000487142.1:p.Ala678_Pro681del
ENST00000629676.2:c.1679+6302_1680-6294del	ENSP00000486194.1:n.1679+6302_1680-6294del
NM_004518.4:c.2031_2042del	NP_004509.2:p.Ala678_Pro681del
NM_172106.1:c.2061_2072del	NP_742104.1:p.Ala688_Pro691del
NM_172107.2:c.2115_2126del	NP_742105.1:p.Ala706_Pro709del
NM_172108.3:c.2022_2033del	NP_742106.1:p.Ala675_Pro678del
XM_006723787.1:c.2157_2168del	XP_006723850.1:p.Ala720_Pro723del
XM_011528807.1:c.2223_2234del	XP_011527109.1:p.Ala742_Pro745del
XM_011528808.1:c.2220_2231del	XP_011527110.1:p.Ala741_Pro744del
XM_011528809.1:c.2193_2204del	XP_011527111.1:p.Ala732_Pro735del
XM_011528810.1:c.2169_2180del	XP_011527112.1:p.Ala724_Pro727del
XM_011528811.1:c.2139_2150del	XP_011527113.1:p.Ala714_Pro717del
XM_011528812.1:c.2112_2123del	XP_011527114.1:p.Ala705_Pro708del
XM_011528813.1:c.2097_2108del	XP_011527115.1:p.Ala700_Pro703del
XM_011528814.1:c.1704_1715del	XP_011527116.1:p.Ala569_Pro572del
NM_004518.5:c.2031_2042del	NP_004509.2:p.Ala678_Pro681del
NM_172106.2:c.2061_2072del	NP_742104.1:p.Ala688_Pro691del
NM_172107.3:c.2115_2126del	NP_742105.1:p.Ala706_Pro709del
NM_172108.4:c.2022_2033del	NP_742106.1:p.Ala675_Pro678del
XM_011528810.2:c.2169_2180del	XP_011527112.1:p.Ala724_Pro727del
XM_011528811.2:c.2139_2150del	XP_011527113.1:p.Ala714_Pro717del
XM_017027841.2:c.2166_2177del	XP_016883330.1:p.Ala723_Pro726del
XM_017027842.2:c.2103_2114del	XP_016883331.1:p.Ala702_Pro705del
XM_017027843.1:c.2100_2111del	XP_016883332.1:p.Ala701_Pro704del
XM_017027844.2:c.2058_2069del	XP_016883333.1:p.Ala687_Pro690del
XM_017027845.1:c.1131_1142del	XP_016883334.1:p.Ala378_Pro381del
NM_004518.6:c.2031_2042del	NP_004509.2:p.Ala678_Pro681del
NM_172106.3:c.2061_2072del	NP_742104.1:p.Ala688_Pro691del
NM_172107.4:c.2115_2126del MANE Select	NP_742105.1:p.Ala706_Pro709del
NM_172108.5:c.2022_2033del	NP_742106.1:p.Ala675_Pro678del
NM_001382235.1:c.2169_2180del	NP_001369164.1:p.Ala724_Pro727del