Canonical Allele Identifier: CA369861689

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654511C>G (hg19) ; chr7:g.150957423C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957423C>G , CM000669.2:g.150957423C>G	GRCh38
NC_000007.13:g.150654511C>G , CM000669.1:g.150654511C>G	GRCh37
NC_000007.12:g.150285444C>G	NCBI36
NG_008916.1:g.25504G>C , LRG_288:g.25504G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1829G>C
ENST00000262186.10:c.996G>C MANE Select	ENSP00000262186.5:p.Lys332Asn
ENST00000262186.9:c.996G>C	ENSP00000262186.5:p.Lys332Asn
ENST00000430723.4:c.648G>C	ENSP00000387657.4:p.Lys216Asn
ENST00000532957.5:n.1219G>C
NM_000238.3:c.996G>C , LRG_288t1:c.996G>C	NP_000229.1:p.Lys332Asn
NM_172056.2:c.996G>C , LRG_288t2:c.996G>C	NP_742053.1:p.Lys332Asn
XM_011516185.1:c.696G>C	XP_011514487.1:p.Lys232Asn
XM_011516186.1:c.996G>C	XP_011514488.1:p.Lys332Asn
XM_011516185.2:c.696G>C	XP_011514487.1:p.Lys232Asn
XM_011516186.3:c.996G>C	XP_011514488.1:p.Lys332Asn
XM_017012195.1:c.846G>C	XP_016867684.1:p.Lys282Asn
XM_017012196.1:c.819G>C	XP_016867685.1:p.Lys273Asn
NM_000238.4:c.996G>C MANE Select	NP_000229.1:p.Lys332Asn