Canonical Allele Identifier: CA2175374216
Gene: MYEF2 HGNC NCBI
SLC24A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134864A= , CM000677.2:g.48134864A= GRCh38
NC_000015.9:g.48427061A= , CM000677.1:g.48427061A= GRCh37
NC_000015.8:g.46214353A= NCBI36
NG_011500.1:g.18893A=

Transcript Alleles

HGVS Amino-acid change
ENST00000324324.12:c.*8044T= (MYEF2) MANE Select ENSP00000316950.7:n.*8044T=
ENST00000341459.8:c.490-20A= (SLC24A5) MANE Select ENSP00000341550.3:n.490-20A=
ENST00000324324.11:c.*8044T= (MYEF2) ENSP00000316950.7:n.*8044T=
ENST00000341459.7:c.490-20A= (SLC24A5) ENSP00000341550.3:n.490-20A=
ENST00000449382.2:c.310-20A= (SLC24A5) ENSP00000389966.2:n.310-20A=
ENST00000463289.1:n.250-20A= (SLC24A5)
NM_205850.2:c.490-20A= (SLC24A5) NP_995322.1:n.490-20A=
XM_011521458.1:c.511-20A= (SLC24A5) XP_011519760.1:n.511-20A=
XM_005254425.4:c.*8199T= (MYEF2) XP_005254482.2:n.*8199T=
XM_017022079.1:c.244-20A= (SLC24A5) XP_016877568.1:n.244-20A=
XM_017022080.1:c.244-20A= (SLC24A5) XP_016877569.1:n.244-20A=
XM_017022285.1:c.*8199T= (MYEF2) XP_016877774.1:n.*8199T=
XM_017022286.1:c.*8199T= (MYEF2) XP_016877775.1:n.*8199T=
XM_017022287.1:c.*8199T= (MYEF2) XP_016877776.1:n.*8199T=
XM_017022291.1:c.*8199T= (MYEF2) XP_016877780.1:n.*8199T=
XM_017022292.1:c.*8199T= (MYEF2) XP_016877781.1:n.*8199T=
XM_024449901.1:c.151-20A= (SLC24A5) XP_024305669.1:n.151-20A=
NM_016132.5:c.*8044T= (MYEF2) MANE Select NP_057216.3:n.*8044T=
NM_001301210.2:c.*8044T= (MYEF2) NP_001288139.2:n.*8044T=
NM_205850.3:c.490-20A= (SLC24A5) MANE Select NP_995322.1:n.490-20A=