Canonical Allele Identifier: CA392450985

Gene: MYEF2 SLC24A5

Linked Data

• ClinVar Variation Id: 436742
• ClinVar RCV Id: RCV000500925
• dbSNP Id: rs1555452574
• MyVariant Identifiers: chr15:g.48427119T>A (hg19) ; chr15:g.48134922T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134922T>A , CM000677.2:g.48134922T>A	GRCh38
NC_000015.9:g.48427119T>A , CM000677.1:g.48427119T>A	GRCh37
NC_000015.8:g.46214411T>A	NCBI36
NG_011500.1:g.18951T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324324.12:c.*7986A>T (MYEF2) MANE Select	ENSP00000316950.7:n.*7986A>T
ENST00000341459.8:c.528T>A (SLC24A5) MANE Select	ENSP00000341550.3:p.Cys176Ter
ENST00000324324.11:c.*7986A>T (MYEF2)	ENSP00000316950.7:n.*7986A>T
ENST00000341459.7:c.528T>A (SLC24A5)	ENSP00000341550.3:p.Cys176Ter
ENST00000449382.2:c.348T>A (SLC24A5)	ENSP00000389966.2:p.Cys116Ter
ENST00000463289.1:n.288T>A (SLC24A5)
NM_205850.2:c.528T>A (SLC24A5)	NP_995322.1:p.Cys176Ter
XM_011521458.1:c.549T>A (SLC24A5)	XP_011519760.1:p.Cys183Ter
XM_005254425.4:c.*8141A>T (MYEF2)	XP_005254482.2:n.*8141A>T
XM_017022079.1:c.282T>A (SLC24A5)	XP_016877568.1:p.Cys94Ter
XM_017022080.1:c.282T>A (SLC24A5)	XP_016877569.1:p.Cys94Ter
XM_017022285.1:c.*8141A>T (MYEF2)	XP_016877774.1:n.*8141A>T
XM_017022286.1:c.*8141A>T (MYEF2)	XP_016877775.1:n.*8141A>T
XM_017022287.1:c.*8141A>T (MYEF2)	XP_016877776.1:n.*8141A>T
XM_017022291.1:c.*8141A>T (MYEF2)	XP_016877780.1:n.*8141A>T
XM_017022292.1:c.*8141A>T (MYEF2)	XP_016877781.1:n.*8141A>T
XM_024449901.1:c.189T>A (SLC24A5)	XP_024305669.1:p.Cys63Ter
NM_016132.5:c.*7986A>T (MYEF2) MANE Select	NP_057216.3:n.*7986A>T
NM_001301210.2:c.*7986A>T (MYEF2)	NP_001288139.2:n.*7986A>T
NM_205850.3:c.528T>A (SLC24A5) MANE Select	NP_995322.1:p.Cys176Ter