Canonical Allele Identifier: CA392450455

Gene: MYEF2 SLC24A5

Linked Data

• MyVariant Identifiers: chr15:g.48427098T>A (hg19) ; chr15:g.48134901T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134901T>A , CM000677.2:g.48134901T>A	GRCh38
NC_000015.9:g.48427098T>A , CM000677.1:g.48427098T>A	GRCh37
NC_000015.8:g.46214390T>A	NCBI36
NG_011500.1:g.18930T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324324.12:c.*8007A>T (MYEF2) MANE Select	ENSP00000316950.7:n.*8007A>T
ENST00000341459.8:c.507T>A (SLC24A5) MANE Select	ENSP00000341550.3:p.Cys169Ter
ENST00000324324.11:c.*8007A>T (MYEF2)	ENSP00000316950.7:n.*8007A>T
ENST00000341459.7:c.507T>A (SLC24A5)	ENSP00000341550.3:p.Cys169Ter
ENST00000449382.2:c.327T>A (SLC24A5)	ENSP00000389966.2:p.Cys109Ter
ENST00000463289.1:n.267T>A (SLC24A5)
NM_205850.2:c.507T>A (SLC24A5)	NP_995322.1:p.Cys169Ter
XM_011521458.1:c.528T>A (SLC24A5)	XP_011519760.1:p.Cys176Ter
XM_005254425.4:c.*8162A>T (MYEF2)	XP_005254482.2:n.*8162A>T
XM_017022079.1:c.261T>A (SLC24A5)	XP_016877568.1:p.Cys87Ter
XM_017022080.1:c.261T>A (SLC24A5)	XP_016877569.1:p.Cys87Ter
XM_017022285.1:c.*8162A>T (MYEF2)	XP_016877774.1:n.*8162A>T
XM_017022286.1:c.*8162A>T (MYEF2)	XP_016877775.1:n.*8162A>T
XM_017022287.1:c.*8162A>T (MYEF2)	XP_016877776.1:n.*8162A>T
XM_017022291.1:c.*8162A>T (MYEF2)	XP_016877780.1:n.*8162A>T
XM_017022292.1:c.*8162A>T (MYEF2)	XP_016877781.1:n.*8162A>T
XM_024449901.1:c.168T>A (SLC24A5)	XP_024305669.1:p.Cys56Ter
NM_016132.5:c.*8007A>T (MYEF2) MANE Select	NP_057216.3:n.*8007A>T
NM_001301210.2:c.*8007A>T (MYEF2)	NP_001288139.2:n.*8007A>T
NM_205850.3:c.507T>A (SLC24A5) MANE Select	NP_995322.1:p.Cys169Ter