Canonical Allele Identifier: CA1752425855
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150945502T= , CM000669.2:g.150945502T= GRCh38
NC_000007.13:g.150642590T= , CM000669.1:g.150642590T= GRCh37
NC_000007.12:g.150273523T= NCBI36
NG_008916.1:g.37425A= , LRG_288:g.37425A=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.4176A=
ENST00000262186.10:c.3343A= MANE Select ENSP00000262186.5:p.Met1115=
ENST00000330883.9:c.2323A= ENSP00000328531.4:p.Met775=
ENST00000262186.9:c.3343A= ENSP00000262186.5:p.Met1115=
ENST00000330883.8:c.2323A= ENSP00000328531.4:p.Met775=
NM_000238.3:c.3343A= , LRG_288t1:c.3343A= NP_000229.1:p.Met1115=
NM_172057.2:c.2323A= , LRG_288t3:c.2323A= NP_742054.1:p.Met775=
XM_011516185.1:c.3043A= XP_011514487.1:p.Met1015=
XM_011516185.2:c.3043A= XP_011514487.1:p.Met1015=
XM_017012195.1:c.3193A= XP_016867684.1:p.Met1065=
XM_017012196.1:c.3166A= XP_016867685.1:p.Met1056=
NM_000238.4:c.3343A= MANE Select NP_000229.1:p.Met1115=
NM_172057.3:c.2323A= NP_742054.1:p.Met775=