Canonical Allele Identifier: CA392450525

Gene: MYEF2 SLC24A5

Linked Data

• gnomAD v4: 15-48134920-T-C
• MyVariant Identifiers: chr15:g.48427117T>C (hg19) ; chr15:g.48134920T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134920T>C , CM000677.2:g.48134920T>C	GRCh38
NC_000015.9:g.48427117T>C , CM000677.1:g.48427117T>C	GRCh37
NC_000015.8:g.46214409T>C	NCBI36
NG_011500.1:g.18949T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324324.12:c.*7988A>G (MYEF2) MANE Select	ENSP00000316950.7:n.*7988A>G
ENST00000341459.8:c.526T>C (SLC24A5) MANE Select	ENSP00000341550.3:p.Cys176Arg
ENST00000324324.11:c.*7988A>G (MYEF2)	ENSP00000316950.7:n.*7988A>G
ENST00000341459.7:c.526T>C (SLC24A5)	ENSP00000341550.3:p.Cys176Arg
ENST00000449382.2:c.346T>C (SLC24A5)	ENSP00000389966.2:p.Cys116Arg
ENST00000463289.1:n.286T>C (SLC24A5)
NM_205850.2:c.526T>C (SLC24A5)	NP_995322.1:p.Cys176Arg
XM_011521458.1:c.547T>C (SLC24A5)	XP_011519760.1:p.Cys183Arg
XM_005254425.4:c.*8143A>G (MYEF2)	XP_005254482.2:n.*8143A>G
XM_017022079.1:c.280T>C (SLC24A5)	XP_016877568.1:p.Cys94Arg
XM_017022080.1:c.280T>C (SLC24A5)	XP_016877569.1:p.Cys94Arg
XM_017022285.1:c.*8143A>G (MYEF2)	XP_016877774.1:n.*8143A>G
XM_017022286.1:c.*8143A>G (MYEF2)	XP_016877775.1:n.*8143A>G
XM_017022287.1:c.*8143A>G (MYEF2)	XP_016877776.1:n.*8143A>G
XM_017022291.1:c.*8143A>G (MYEF2)	XP_016877780.1:n.*8143A>G
XM_017022292.1:c.*8143A>G (MYEF2)	XP_016877781.1:n.*8143A>G
XM_024449901.1:c.187T>C (SLC24A5)	XP_024305669.1:p.Cys63Arg
NM_016132.5:c.*7988A>G (MYEF2) MANE Select	NP_057216.3:n.*7988A>G
NM_001301210.2:c.*7988A>G (MYEF2)	NP_001288139.2:n.*7988A>G
NM_205850.3:c.526T>C (SLC24A5) MANE Select	NP_995322.1:p.Cys176Arg