Canonical Allele Identifier: CA3212264184

Gene: MYEF2 SLC24A5

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48136733T= , CM000677.2:g.48136733T=	GRCh38
NC_000015.9:g.48428930T= , CM000677.1:g.48428930T=	GRCh37
NC_000015.8:g.46216222T=	NCBI36
NG_011500.1:g.20762T=

Transcript Alleles

HGVS	Amino-acid Change
NM_016132.5:c.*6175A= (MYEF2) MANE Select	NP_057216.3:n.*6175A=
NM_205850.3:c.641T= (SLC24A5) MANE Select	NP_995322.1:p.Leu214=
ENST00000324324.12:c.*6175A= (MYEF2) MANE Select	ENSP00000316950.7:n.*6175A=
ENST00000341459.8:c.641T= (SLC24A5) MANE Select	ENSP00000341550.3:p.Leu214=
NM_001301210.2:c.*6175A= (MYEF2)	NP_001288139.2:n.*6175A=
NM_205850.2:c.641T= (SLC24A5)	NP_995322.1:p.Leu214=
ENST00000324324.11:c.*6175A= (MYEF2)	ENSP00000316950.7:n.*6175A=
ENST00000341459.7:c.641T= (SLC24A5)	ENSP00000341550.3:p.Leu214=
ENST00000449382.2:c.461T= (SLC24A5)	ENSP00000389966.2:p.Leu154=
ENST00000463289.1:n.401T= (SLC24A5)
XM_005254425.4:c.*6330A= (MYEF2)	XP_005254482.2:n.*6330A=
XM_011521458.1:c.662T= (SLC24A5)	XP_011519760.1:p.Leu221=
XM_017022079.1:c.395T= (SLC24A5)	XP_016877568.1:p.Leu132=
XM_017022080.1:c.395T= (SLC24A5)	XP_016877569.1:p.Leu132=
XM_017022285.1:c.*6330A= (MYEF2)	XP_016877774.1:n.*6330A=
XM_017022286.1:c.*6330A= (MYEF2)	XP_016877775.1:n.*6330A=
XM_017022287.1:c.*6330A= (MYEF2)	XP_016877776.1:n.*6330A=
XM_017022291.1:c.*6330A= (MYEF2)	XP_016877780.1:n.*6330A=
XM_017022292.1:c.*6330A= (MYEF2)	XP_016877781.1:n.*6330A=
XM_024449901.1:c.302T= (SLC24A5)	XP_024305669.1:p.Leu101=