Canonical Allele Identifier: CA2685602419

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948378-C-CCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948381_150948383dup , CM000669.2:g.150948381_150948383dup	GRCh38
NC_000007.13:g.150645469_150645471dup , CM000669.1:g.150645469_150645471dup	GRCh37
NC_000007.12:g.150276402_150276404dup	NCBI36
NG_008916.1:g.34546_34548dup , LRG_288:g.34546_34548dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+63_3525+65dup
ENST00000262186.10:c.2692+63_2692+65dup MANE Select	ENSP00000262186.5:n.2692+63_2692+65dup
ENST00000330883.9:c.1672+63_1672+65dup	ENSP00000328531.4:n.1672+63_1672+65dup
ENST00000262186.9:c.2692+63_2692+65dup	ENSP00000262186.5:n.2692+63_2692+65dup
ENST00000330883.8:c.1672+63_1672+65dup	ENSP00000328531.4:n.1672+63_1672+65dup
NM_000238.3:c.2692+63_2692+65dup , LRG_288t1:c.2692+63_2692+65dup	NP_000229.1:n.2692+63_2692+65dup
NM_172057.2:c.1672+63_1672+65dup , LRG_288t3:c.1672+63_1672+65dup	NP_742054.1:n.1672+63_1672+65dup
XM_011516185.1:c.2392+63_2392+65dup	XP_011514487.1:n.2392+63_2392+65dup
XM_011516186.1:c.2692+63_2692+65dup	XP_011514488.1:n.2692+63_2692+65dup
XM_011516185.2:c.2392+63_2392+65dup	XP_011514487.1:n.2392+63_2392+65dup
XM_011516186.3:c.2692+63_2692+65dup	XP_011514488.1:n.2692+63_2692+65dup
XM_017012195.1:c.2542+63_2542+65dup	XP_016867684.1:n.2542+63_2542+65dup
XM_017012196.1:c.2515+63_2515+65dup	XP_016867685.1:n.2515+63_2515+65dup
NM_000238.4:c.2692+63_2692+65dup MANE Select	NP_000229.1:n.2692+63_2692+65dup
NM_172057.3:c.1672+63_1672+65dup	NP_742054.1:n.1672+63_1672+65dup