Canonical Allele Identifier: CA369851607

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150642590T>G (hg19) ; chr7:g.150945502T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4176A>C
ENST00000262186.10:c.3343A>C MANE Select	ENSP00000262186.5:p.Met1115Leu
ENST00000330883.9:c.2323A>C	ENSP00000328531.4:p.Met775Leu
ENST00000262186.9:c.3343A>C	ENSP00000262186.5:p.Met1115Leu
ENST00000330883.8:c.2323A>C	ENSP00000328531.4:p.Met775Leu
NM_000238.3:c.3343A>C , LRG_288t1:c.3343A>C	NP_000229.1:p.Met1115Leu
NM_172057.2:c.2323A>C , LRG_288t3:c.2323A>C	NP_742054.1:p.Met775Leu
XM_011516185.1:c.3043A>C	XP_011514487.1:p.Met1015Leu
XM_011516185.2:c.3043A>C	XP_011514487.1:p.Met1015Leu
XM_017012195.1:c.3193A>C	XP_016867684.1:p.Met1065Leu
XM_017012196.1:c.3166A>C	XP_016867685.1:p.Met1056Leu
NM_000238.4:c.3343A>C MANE Select	NP_000229.1:p.Met1115Leu
NM_172057.3:c.2323A>C	NP_742054.1:p.Met775Leu