Canonical Allele Identifier: CA2685602663

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948426-T-TACAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948426_150948427insACAA , CM000669.2:g.150948426_150948427insACAA	GRCh38
NC_000007.13:g.150645514_150645515insACAA , CM000669.1:g.150645514_150645515insACAA	GRCh37
NC_000007.12:g.150276447_150276448insACAA	NCBI36
NG_008916.1:g.34500_34501insTTGT , LRG_288:g.34500_34501insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+17_3525+18insTTGT
ENST00000262186.10:c.2692+17_2692+18insTTGT MANE Select	ENSP00000262186.5:n.2692+17_2692+18insTTGT
ENST00000330883.9:c.1672+17_1672+18insTTGT	ENSP00000328531.4:n.1672+17_1672+18insTTGT
ENST00000262186.9:c.2692+17_2692+18insTTGT	ENSP00000262186.5:n.2692+17_2692+18insTTGT
ENST00000330883.8:c.1672+17_1672+18insTTGT	ENSP00000328531.4:n.1672+17_1672+18insTTGT
NM_000238.3:c.2692+17_2692+18insTTGT , LRG_288t1:c.2692+17_2692+18insTTGT	NP_000229.1:n.2692+17_2692+18insTTGT
NM_172057.2:c.1672+17_1672+18insTTGT , LRG_288t3:c.1672+17_1672+18insTTGT	NP_742054.1:n.1672+17_1672+18insTTGT
XM_011516185.1:c.2392+17_2392+18insTTGT	XP_011514487.1:n.2392+17_2392+18insTTGT
XM_011516186.1:c.2692+17_2692+18insTTGT	XP_011514488.1:n.2692+17_2692+18insTTGT
XM_011516185.2:c.2392+17_2392+18insTTGT	XP_011514487.1:n.2392+17_2392+18insTTGT
XM_011516186.3:c.2692+17_2692+18insTTGT	XP_011514488.1:n.2692+17_2692+18insTTGT
XM_017012195.1:c.2542+17_2542+18insTTGT	XP_016867684.1:n.2542+17_2542+18insTTGT
XM_017012196.1:c.2515+17_2515+18insTTGT	XP_016867685.1:n.2515+17_2515+18insTTGT
NM_000238.4:c.2692+17_2692+18insTTGT MANE Select	NP_000229.1:n.2692+17_2692+18insTTGT
NM_172057.3:c.1672+17_1672+18insTTGT	NP_742054.1:n.1672+17_1672+18insTTGT