Canonical Allele Identifier: CA656132254

Gene: MYEF2 SLC24A5

Linked Data

• COSMIC: COSN26639677

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134853G>T , CM000677.2:g.48134853G>T	GRCh38
NC_000015.9:g.48427050G>T , CM000677.1:g.48427050G>T	GRCh37
NC_000015.8:g.46214342G>T	NCBI36
NG_011500.1:g.18882G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324324.12:c.*8055C>A (MYEF2) MANE Select	ENSP00000316950.7:n.*8055C>A
ENST00000341459.8:c.490-31G>T (SLC24A5) MANE Select	ENSP00000341550.3:n.490-31G>T
ENST00000324324.11:c.*8055C>A (MYEF2)	ENSP00000316950.7:n.*8055C>A
ENST00000341459.7:c.490-31G>T (SLC24A5)	ENSP00000341550.3:n.490-31G>T
ENST00000449382.2:c.310-31G>T (SLC24A5)	ENSP00000389966.2:n.310-31G>T
ENST00000463289.1:n.250-31G>T (SLC24A5)
NM_205850.2:c.490-31G>T (SLC24A5)	NP_995322.1:n.490-31G>T
XM_011521458.1:c.511-31G>T (SLC24A5)	XP_011519760.1:n.511-31G>T
XM_005254425.4:c.*8210C>A (MYEF2)	XP_005254482.2:n.*8210C>A
XM_017022079.1:c.244-31G>T (SLC24A5)	XP_016877568.1:n.244-31G>T
XM_017022080.1:c.244-31G>T (SLC24A5)	XP_016877569.1:n.244-31G>T
XM_017022285.1:c.*8210C>A (MYEF2)	XP_016877774.1:n.*8210C>A
XM_017022286.1:c.*8210C>A (MYEF2)	XP_016877775.1:n.*8210C>A
XM_017022287.1:c.*8210C>A (MYEF2)	XP_016877776.1:n.*8210C>A
XM_017022291.1:c.*8210C>A (MYEF2)	XP_016877780.1:n.*8210C>A
XM_017022292.1:c.*8210C>A (MYEF2)	XP_016877781.1:n.*8210C>A
XM_024449901.1:c.151-31G>T (SLC24A5)	XP_024305669.1:n.151-31G>T
NM_016132.5:c.*8055C>A (MYEF2) MANE Select	NP_057216.3:n.*8055C>A
NM_001301210.2:c.*8055C>A (MYEF2)	NP_001288139.2:n.*8055C>A
NM_205850.3:c.490-31G>T (SLC24A5) MANE Select	NP_995322.1:n.490-31G>T