Canonical Allele Identifier: CA2685601202

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947159-CCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947169_150947249del , CM000669.2:g.150947169_150947249del	GRCh38
NC_000007.13:g.150644257_150644337del , CM000669.1:g.150644257_150644337del	GRCh37
NC_000007.12:g.150275190_150275270del	NCBI36
NG_008916.1:g.35687_35767del , LRG_288:g.35687_35767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3985+88_3986-106del
ENST00000262186.10:c.3152+88_3153-106del MANE Select	ENSP00000262186.5:n.3152+88_3153-106del
ENST00000330883.9:c.2132+88_2133-106del	ENSP00000328531.4:n.2132+88_2133-106del
ENST00000262186.9:c.3152+88_3153-106del	ENSP00000262186.5:n.3152+88_3153-106del
ENST00000330883.8:c.2132+88_2133-106del	ENSP00000328531.4:n.2132+88_2133-106del
NM_000238.3:c.3152+88_3153-106del , LRG_288t1:c.3152+88_3153-106del	NP_000229.1:n.3152+88_3153-106del
NM_172057.2:c.2132+88_2133-106del , LRG_288t3:c.2132+88_2133-106del	NP_742054.1:n.2132+88_2133-106del
XM_011516185.1:c.2852+88_2853-106del	XP_011514487.1:n.2852+88_2853-106del
XM_011516185.2:c.2852+88_2853-106del	XP_011514487.1:n.2852+88_2853-106del
XM_017012195.1:c.3002+88_3003-106del	XP_016867684.1:n.3002+88_3003-106del
XM_017012196.1:c.2975+88_2976-106del	XP_016867685.1:n.2975+88_2976-106del
NM_000238.4:c.3152+88_3153-106del MANE Select	NP_000229.1:n.3152+88_3153-106del
NM_172057.3:c.2132+88_2133-106del	NP_742054.1:n.2132+88_2133-106del