Canonical Allele Identifier: CA369855132

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646056T>G (hg19) ; chr7:g.150948968T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948968T>G , CM000669.2:g.150948968T>G	GRCh38
NC_000007.13:g.150646056T>G , CM000669.1:g.150646056T>G	GRCh37
NC_000007.12:g.150276989T>G	NCBI36
NG_008916.1:g.33959A>C , LRG_288:g.33959A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3313A>C
ENST00000262186.10:c.2480A>C MANE Select	ENSP00000262186.5:p.Tyr827Ser
ENST00000330883.9:c.1460A>C	ENSP00000328531.4:p.Tyr487Ser
ENST00000262186.9:c.2480A>C	ENSP00000262186.5:p.Tyr827Ser
ENST00000330883.8:c.1460A>C	ENSP00000328531.4:p.Tyr487Ser
NM_000238.3:c.2480A>C , LRG_288t1:c.2480A>C	NP_000229.1:p.Tyr827Ser
NM_172057.2:c.1460A>C , LRG_288t3:c.1460A>C	NP_742054.1:p.Tyr487Ser
XM_011516185.1:c.2180A>C	XP_011514487.1:p.Tyr727Ser
XM_011516186.1:c.2480A>C	XP_011514488.1:p.Tyr827Ser
XM_011516185.2:c.2180A>C	XP_011514487.1:p.Tyr727Ser
XM_011516186.3:c.2480A>C	XP_011514488.1:p.Tyr827Ser
XM_017012195.1:c.2330A>C	XP_016867684.1:p.Tyr777Ser
XM_017012196.1:c.2303A>C	XP_016867685.1:p.Tyr768Ser
NM_000238.4:c.2480A>C MANE Select	NP_000229.1:p.Tyr827Ser
NM_172057.3:c.1460A>C	NP_742054.1:p.Tyr487Ser