Canonical Allele Identifier: CA2175374200
Gene: MYEF2 HGNC NCBI
SLC24A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134824C= , CM000677.2:g.48134824C= GRCh38
NC_000015.9:g.48427021C= , CM000677.1:g.48427021C= GRCh37
NC_000015.8:g.46214313C= NCBI36
NG_011500.1:g.18853C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000324324.12:c.*8084G= (MYEF2) MANE Select ENSP00000316950.7:n.*8084G=
ENST00000341459.8:c.490-60C= (SLC24A5) MANE Select ENSP00000341550.3:n.490-60C=
ENST00000324324.11:c.*8084G= (MYEF2) ENSP00000316950.7:n.*8084G=
ENST00000341459.7:c.490-60C= (SLC24A5) ENSP00000341550.3:n.490-60C=
ENST00000449382.2:c.310-60C= (SLC24A5) ENSP00000389966.2:n.310-60C=
ENST00000463289.1:n.250-60C= (SLC24A5)
NM_205850.2:c.490-60C= (SLC24A5) NP_995322.1:n.490-60C=
XM_011521458.1:c.511-60C= (SLC24A5) XP_011519760.1:n.511-60C=
XM_005254425.4:c.*8239G= (MYEF2) XP_005254482.2:n.*8239G=
XM_017022079.1:c.244-60C= (SLC24A5) XP_016877568.1:n.244-60C=
XM_017022080.1:c.244-60C= (SLC24A5) XP_016877569.1:n.244-60C=
XM_017022285.1:c.*8239G= (MYEF2) XP_016877774.1:n.*8239G=
XM_017022286.1:c.*8239G= (MYEF2) XP_016877775.1:n.*8239G=
XM_017022287.1:c.*8239G= (MYEF2) XP_016877776.1:n.*8239G=
XM_017022291.1:c.*8239G= (MYEF2) XP_016877780.1:n.*8239G=
XM_017022292.1:c.*8239G= (MYEF2) XP_016877781.1:n.*8239G=
XM_024449901.1:c.151-60C= (SLC24A5) XP_024305669.1:n.151-60C=
NM_016132.5:c.*8084G= (MYEF2) MANE Select NP_057216.3:n.*8084G=
NM_001301210.2:c.*8084G= (MYEF2) NP_001288139.2:n.*8084G=
NM_205850.3:c.490-60C= (SLC24A5) MANE Select NP_995322.1:n.490-60C=