Canonical Allele Identifier: CA2175374250

Gene: MYEF2 SLC24A5

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134948C= , CM000677.2:g.48134948C=	GRCh38
NC_000015.9:g.48427145C= , CM000677.1:g.48427145C=	GRCh37
NC_000015.8:g.46214437C=	NCBI36
NG_011500.1:g.18977C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000324324.12:c.*7960G= (MYEF2) MANE Select	ENSP00000316950.7:n.*7960G=
ENST00000341459.8:c.554C= (SLC24A5) MANE Select	ENSP00000341550.3:p.Ala185=
ENST00000324324.11:c.*7960G= (MYEF2)	ENSP00000316950.7:n.*7960G=
ENST00000341459.7:c.554C= (SLC24A5)	ENSP00000341550.3:p.Ala185=
ENST00000449382.2:c.374C= (SLC24A5)	ENSP00000389966.2:p.Ala125=
ENST00000463289.1:n.314C= (SLC24A5)
NM_205850.2:c.554C= (SLC24A5)	NP_995322.1:p.Ala185=
XM_011521458.1:c.575C= (SLC24A5)	XP_011519760.1:p.Ala192=
XM_005254425.4:c.*8115G= (MYEF2)	XP_005254482.2:n.*8115G=
XM_017022079.1:c.308C= (SLC24A5)	XP_016877568.1:p.Ala103=
XM_017022080.1:c.308C= (SLC24A5)	XP_016877569.1:p.Ala103=
XM_017022285.1:c.*8115G= (MYEF2)	XP_016877774.1:n.*8115G=
XM_017022286.1:c.*8115G= (MYEF2)	XP_016877775.1:n.*8115G=
XM_017022287.1:c.*8115G= (MYEF2)	XP_016877776.1:n.*8115G=
XM_017022291.1:c.*8115G= (MYEF2)	XP_016877780.1:n.*8115G=
XM_017022292.1:c.*8115G= (MYEF2)	XP_016877781.1:n.*8115G=
XM_024449901.1:c.215C= (SLC24A5)	XP_024305669.1:p.Ala72=
NM_016132.5:c.*7960G= (MYEF2) MANE Select	NP_057216.3:n.*7960G=
NM_001301210.2:c.*7960G= (MYEF2)	NP_001288139.2:n.*7960G=
NM_205850.3:c.554C= (SLC24A5) MANE Select	NP_995322.1:p.Ala185=