Canonical Allele Identifier: CA1752431312

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801004647
• gnomAD v4: 7-150948454-G-GCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948456_150948458dup , CM000669.2:g.150948456_150948458dup	GRCh38
NC_000007.13:g.150645544_150645546dup , CM000669.1:g.150645544_150645546dup	GRCh37
NC_000007.12:g.150276477_150276479dup	NCBI36
NG_008916.1:g.34470_34472dup , LRG_288:g.34470_34472dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3512_3514dup
ENST00000262186.10:c.2679_2681dup MANE Select	ENSP00000262186.5:p.Arg894_Thr895insArg
ENST00000330883.9:c.1659_1661dup	ENSP00000328531.4:p.Arg554_Thr555insArg
ENST00000262186.9:c.2679_2681dup	ENSP00000262186.5:p.Arg894_Thr895insArg
ENST00000330883.8:c.1659_1661dup	ENSP00000328531.4:p.Arg554_Thr555insArg
NM_000238.3:c.2679_2681dup , LRG_288t1:c.2679_2681dup	NP_000229.1:p.Arg894_Thr895insArg
NM_172057.2:c.1659_1661dup , LRG_288t3:c.1659_1661dup	NP_742054.1:p.Arg554_Thr555insArg
XM_011516185.1:c.2379_2381dup	XP_011514487.1:p.Arg794_Thr795insArg
XM_011516186.1:c.2679_2681dup	XP_011514488.1:p.Arg894_Thr895insArg
XM_011516185.2:c.2379_2381dup	XP_011514487.1:p.Arg794_Thr795insArg
XM_011516186.3:c.2679_2681dup	XP_011514488.1:p.Arg894_Thr895insArg
XM_017012195.1:c.2529_2531dup	XP_016867684.1:p.Arg844_Thr845insArg
XM_017012196.1:c.2502_2504dup	XP_016867685.1:p.Arg835_Thr836insArg
NM_000238.4:c.2679_2681dup MANE Select	NP_000229.1:p.Arg894_Thr895insArg
NM_172057.3:c.1659_1661dup	NP_742054.1:p.Arg554_Thr555insArg