Canonical Allele Identifier: CA16042928
Gene: MYEF2 HGNC NCBI
SLC24A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 372809
ClinVar RCV Id: RCV000413130
dbSNP Id: rs1057517995

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134940T>A , CM000677.2:g.48134940T>A GRCh38
NC_000015.9:g.48427137T>A , CM000677.1:g.48427137T>A GRCh37
NC_000015.8:g.46214429T>A NCBI36
NG_011500.1:g.18969T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000324324.12:c.*7968A>T (MYEF2) MANE Select ENSP00000316950.7:n.*7968A>T
ENST00000341459.8:c.546T>A (SLC24A5) MANE Select ENSP00000341550.3:p.Ser182Arg
ENST00000324324.11:c.*7968A>T (MYEF2) ENSP00000316950.7:n.*7968A>T
ENST00000341459.7:c.546T>A (SLC24A5) ENSP00000341550.3:p.Ser182Arg
ENST00000449382.2:c.366T>A (SLC24A5) ENSP00000389966.2:p.Ser122Arg
ENST00000463289.1:n.306T>A (SLC24A5)
NM_205850.2:c.546T>A (SLC24A5) NP_995322.1:p.Ser182Arg
XM_011521458.1:c.567T>A (SLC24A5) XP_011519760.1:p.Ser189Arg
XM_005254425.4:c.*8123A>T (MYEF2) XP_005254482.2:n.*8123A>T
XM_017022079.1:c.300T>A (SLC24A5) XP_016877568.1:p.Ser100Arg
XM_017022080.1:c.300T>A (SLC24A5) XP_016877569.1:p.Ser100Arg
XM_017022285.1:c.*8123A>T (MYEF2) XP_016877774.1:n.*8123A>T
XM_017022286.1:c.*8123A>T (MYEF2) XP_016877775.1:n.*8123A>T
XM_017022287.1:c.*8123A>T (MYEF2) XP_016877776.1:n.*8123A>T
XM_017022291.1:c.*8123A>T (MYEF2) XP_016877780.1:n.*8123A>T
XM_017022292.1:c.*8123A>T (MYEF2) XP_016877781.1:n.*8123A>T
XM_024449901.1:c.207T>A (SLC24A5) XP_024305669.1:p.Ser69Arg
NM_016132.5:c.*7968A>T (MYEF2) MANE Select NP_057216.3:n.*7968A>T
NM_001301210.2:c.*7968A>T (MYEF2) NP_001288139.2:n.*7968A>T
NM_205850.3:c.546T>A (SLC24A5) MANE Select NP_995322.1:p.Ser182Arg