Canonical Allele Identifier: CA2695208723

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951602_150951609del , CM000669.2:g.150951602_150951609del	GRCh38
NC_000007.13:g.150648690_150648697del , CM000669.1:g.150648690_150648697del	GRCh37
NC_000007.12:g.150279623_150279630del	NCBI36
NG_008916.1:g.31321_31328del , LRG_288:g.31321_31328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1085_1092del
ENST00000684241.1:n.2620_2627del
ENST00000262186.10:c.1787_1794del MANE Select	ENSP00000262186.5:p.Pro596GlnfsTer?
ENST00000330883.9:c.767_774del	ENSP00000328531.4:p.Pro256GlnfsTer?
ENST00000262186.9:c.1787_1794del	ENSP00000262186.5:p.Pro596GlnfsTer?
ENST00000330883.8:c.767_774del	ENSP00000328531.4:p.Pro256GlnfsTer?
ENST00000430723.4:c.1439_1446del	ENSP00000387657.4:p.Pro480GlnfsTer?
ENST00000461280.1:n.1074_1081del
ENST00000473610.5:n.1092_1099del
ENST00000532957.5:n.2010_2017del
NM_000238.3:c.1787_1794del , LRG_288t1:c.1787_1794del	NP_000229.1:p.Pro596GlnfsTer?
NM_001204798.1:c.767_774del	NP_001191727.1:p.Pro256GlnfsTer?
NM_172056.2:c.1787_1794del , LRG_288t2:c.1787_1794del	NP_742053.1:p.Pro596GlnfsTer?
NM_172057.2:c.767_774del , LRG_288t3:c.767_774del	NP_742054.1:p.Pro256GlnfsTer?
XM_011516185.1:c.1487_1494del	XP_011514487.1:p.Pro496GlnfsTer?
XM_011516186.1:c.1787_1794del	XP_011514488.1:p.Pro596GlnfsTer?
XM_011516185.2:c.1487_1494del	XP_011514487.1:p.Pro496GlnfsTer?
XM_011516186.3:c.1787_1794del	XP_011514488.1:p.Pro596GlnfsTer?
XM_017012195.1:c.1637_1644del	XP_016867684.1:p.Pro546GlnfsTer?
XM_017012196.1:c.1610_1617del	XP_016867685.1:p.Pro537GlnfsTer?
NM_000238.4:c.1787_1794del MANE Select	NP_000229.1:p.Pro596GlnfsTer?
NM_001204798.2:c.767_774del	NP_001191727.1:p.Pro256GlnfsTer?
NM_172057.3:c.767_774del	NP_742054.1:p.Pro256GlnfsTer?