Canonical Allele Identifier: CA2685605023

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950471-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950473_150950474del , CM000669.2:g.150950473_150950474del	GRCh38
NC_000007.13:g.150647561_150647562del , CM000669.1:g.150647561_150647562del	GRCh37
NC_000007.12:g.150278494_150278495del	NCBI36
NG_008916.1:g.32454_32455del , LRG_288:g.32454_32455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1444-53_1444-52del
ENST00000684241.1:n.2979-53_2979-52del
ENST00000262186.10:c.2146-53_2146-52del MANE Select	ENSP00000262186.5:n.2146-53_2146-52del
ENST00000330883.9:c.1126-53_1126-52del	ENSP00000328531.4:n.1126-53_1126-52del
ENST00000262186.9:c.2146-53_2146-52del	ENSP00000262186.5:n.2146-53_2146-52del
ENST00000330883.8:c.1126-53_1126-52del	ENSP00000328531.4:n.1126-53_1126-52del
ENST00000430723.4:c.1798-53_1798-52del	ENSP00000387657.4:n.1798-53_1798-52del
ENST00000461280.1:n.1433-53_1433-52del
ENST00000473610.5:n.1778-53_1778-52del
ENST00000532957.5:n.2369-53_2369-52del
NM_000238.3:c.2146-53_2146-52del , LRG_288t1:c.2146-53_2146-52del	NP_000229.1:n.2146-53_2146-52del
NM_001204798.1:c.1126-53_1126-52del	NP_001191727.1:n.1126-53_1126-52del
NM_172056.2:c.2146-53_2146-52del , LRG_288t2:c.2146-53_2146-52del	NP_742053.1:n.2146-53_2146-52del
NM_172057.2:c.1126-53_1126-52del , LRG_288t3:c.1126-53_1126-52del	NP_742054.1:n.1126-53_1126-52del
XM_011516185.1:c.1846-53_1846-52del	XP_011514487.1:n.1846-53_1846-52del
XM_011516186.1:c.2146-53_2146-52del	XP_011514488.1:n.2146-53_2146-52del
XM_011516185.2:c.1846-53_1846-52del	XP_011514487.1:n.1846-53_1846-52del
XM_011516186.3:c.2146-53_2146-52del	XP_011514488.1:n.2146-53_2146-52del
XM_017012195.1:c.1996-53_1996-52del	XP_016867684.1:n.1996-53_1996-52del
XM_017012196.1:c.1969-53_1969-52del	XP_016867685.1:n.1969-53_1969-52del
NM_000238.4:c.2146-53_2146-52del MANE Select	NP_000229.1:n.2146-53_2146-52del
NM_001204798.2:c.1126-53_1126-52del	NP_001191727.1:n.1126-53_1126-52del
NM_172057.3:c.1126-53_1126-52del	NP_742054.1:n.1126-53_1126-52del