Canonical Allele Identifier: CA2685607100

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150977804-G-GCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977807_150977809dup , CM000669.2:g.150977807_150977809dup	GRCh38
NC_000007.13:g.150674895_150674897dup , CM000669.1:g.150674895_150674897dup	GRCh37
NC_000007.12:g.150305828_150305830dup	NCBI36
NG_008916.1:g.5120_5122dup , LRG_288:g.5120_5122dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+31_76+33dup MANE Select	ENSP00000262186.5:n.76+31_76+33dup
ENST00000262186.9:c.76+31_76+33dup	ENSP00000262186.5:n.76+31_76+33dup
ENST00000430723.4:c.-102+31_-102+33dup	ENSP00000387657.4:n.-102+31_-102+33dup
ENST00000532957.5:n.299+31_299+33dup
NM_000238.3:c.76+31_76+33dup , LRG_288t1:c.76+31_76+33dup	NP_000229.1:n.76+31_76+33dup
NM_172056.2:c.76+31_76+33dup , LRG_288t2:c.76+31_76+33dup	NP_742053.1:n.76+31_76+33dup
XM_011516186.1:c.76+31_76+33dup	XP_011514488.1:n.76+31_76+33dup
XM_011516186.3:c.76+31_76+33dup	XP_011514488.1:n.76+31_76+33dup
NM_000238.4:c.76+31_76+33dup MANE Select	NP_000229.1:n.76+31_76+33dup