Canonical Allele Identifier: CA2175374157
Gene: MYEF2 HGNC NCBI
SLC24A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134750C= , CM000677.2:g.48134750C= GRCh38
NC_000015.9:g.48426947C= , CM000677.1:g.48426947C= GRCh37
NC_000015.8:g.46214239C= NCBI36
NG_011500.1:g.18779C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000324324.12:c.*8158G= (MYEF2) MANE Select ENSP00000316950.7:n.*8158G=
ENST00000341459.8:c.490-134C= (SLC24A5) MANE Select ENSP00000341550.3:n.490-134C=
ENST00000324324.11:c.*8158G= (MYEF2) ENSP00000316950.7:n.*8158G=
ENST00000341459.7:c.490-134C= (SLC24A5) ENSP00000341550.3:n.490-134C=
ENST00000449382.2:c.310-134C= (SLC24A5) ENSP00000389966.2:n.310-134C=
ENST00000463289.1:n.250-134C= (SLC24A5)
NM_205850.2:c.490-134C= (SLC24A5) NP_995322.1:n.490-134C=
XM_011521458.1:c.511-134C= (SLC24A5) XP_011519760.1:n.511-134C=
XM_005254425.4:c.*8313G= (MYEF2) XP_005254482.2:n.*8313G=
XM_017022079.1:c.244-134C= (SLC24A5) XP_016877568.1:n.244-134C=
XM_017022080.1:c.244-134C= (SLC24A5) XP_016877569.1:n.244-134C=
XM_017022285.1:c.*8313G= (MYEF2) XP_016877774.1:n.*8313G=
XM_017022286.1:c.*8313G= (MYEF2) XP_016877775.1:n.*8313G=
XM_017022287.1:c.*8313G= (MYEF2) XP_016877776.1:n.*8313G=
XM_017022291.1:c.*8313G= (MYEF2) XP_016877780.1:n.*8313G=
XM_017022292.1:c.*8313G= (MYEF2) XP_016877781.1:n.*8313G=
XM_024449901.1:c.151-134C= (SLC24A5) XP_024305669.1:n.151-134C=
NM_016132.5:c.*8158G= (MYEF2) MANE Select NP_057216.3:n.*8158G=
NM_001301210.2:c.*8158G= (MYEF2) NP_001288139.2:n.*8158G=
NM_205850.3:c.490-134C= (SLC24A5) MANE Select NP_995322.1:n.490-134C=