Canonical Allele Identifier: CA033213

Gene: KCNH2

Linked Data

• dbSNP Id: rs753960908
• ExAC: 7:150645643 ATCAG / A
• gnomAD v2: 7-150645643-ATCAG-A
• MyVariant Identifiers: chr7:g.150645644_150645647del (hg19) ; chr7:g.150948556_150948559del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948557_150948560del , CM000669.2:g.150948557_150948560del	GRCh38
NC_000007.13:g.150645645_150645648del , CM000669.1:g.150645645_150645648del	GRCh37
NC_000007.12:g.150276578_150276581del	NCBI36
NG_008916.1:g.34368_34371del , LRG_288:g.34368_34371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3426-16_3426-13del
ENST00000262186.10:c.2593-16_2593-13del MANE Select	ENSP00000262186.5:n.2593-16_2593-13del
ENST00000330883.9:c.1573-16_1573-13del	ENSP00000328531.4:n.1573-16_1573-13del
ENST00000262186.9:c.2593-16_2593-13del	ENSP00000262186.5:n.2593-16_2593-13del
ENST00000330883.8:c.1573-16_1573-13del	ENSP00000328531.4:n.1573-16_1573-13del
NM_000238.3:c.2593-16_2593-13del , LRG_288t1:c.2593-16_2593-13del	NP_000229.1:n.2593-16_2593-13del
NM_172057.2:c.1573-16_1573-13del , LRG_288t3:c.1573-16_1573-13del	NP_742054.1:n.1573-16_1573-13del
XM_011516185.1:c.2293-16_2293-13del	XP_011514487.1:n.2293-16_2293-13del
XM_011516186.1:c.2593-16_2593-13del	XP_011514488.1:n.2593-16_2593-13del
XM_011516185.2:c.2293-16_2293-13del	XP_011514487.1:n.2293-16_2293-13del
XM_011516186.3:c.2593-16_2593-13del	XP_011514488.1:n.2593-16_2593-13del
XM_017012195.1:c.2443-16_2443-13del	XP_016867684.1:n.2443-16_2443-13del
XM_017012196.1:c.2416-16_2416-13del	XP_016867685.1:n.2416-16_2416-13del
NM_000238.4:c.2593-16_2593-13del MANE Select	NP_000229.1:n.2593-16_2593-13del
NM_172057.3:c.1573-16_1573-13del	NP_742054.1:n.1573-16_1573-13del