Canonical Allele Identifier: CA490090527

Gene: MYEF2 SLC24A5

Linked Data

• ClinVar Variation Id: 3005538
• ClinVar RCV Id: RCV003863625
• gnomAD v4: 15-48134952-T-C
• MyVariant Identifiers: chr15:g.48427149T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134952T>C , CM000677.2:g.48134952T>C	GRCh38
NC_000015.9:g.48427149T>C , CM000677.1:g.48427149T>C	GRCh37
NC_000015.8:g.46214441T>C	NCBI36
NG_011500.1:g.18981T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324324.12:c.*7956A>G (MYEF2) MANE Select	ENSP00000316950.7:n.*7956A>G
ENST00000341459.8:c.558T>C (SLC24A5) MANE Select	ENSP00000341550.3:p.Val186=
ENST00000324324.11:c.*7956A>G (MYEF2)	ENSP00000316950.7:n.*7956A>G
ENST00000341459.7:c.558T>C (SLC24A5)	ENSP00000341550.3:p.Val186=
ENST00000449382.2:c.378T>C (SLC24A5)	ENSP00000389966.2:p.Val126=
ENST00000463289.1:n.318T>C (SLC24A5)
NM_205850.2:c.558T>C (SLC24A5)	NP_995322.1:p.Val186=
XM_011521458.1:c.579T>C (SLC24A5)	XP_011519760.1:p.Val193=
XM_005254425.4:c.*8111A>G (MYEF2)	XP_005254482.2:n.*8111A>G
XM_017022079.1:c.312T>C (SLC24A5)	XP_016877568.1:p.Val104=
XM_017022080.1:c.312T>C (SLC24A5)	XP_016877569.1:p.Val104=
XM_017022285.1:c.*8111A>G (MYEF2)	XP_016877774.1:n.*8111A>G
XM_017022286.1:c.*8111A>G (MYEF2)	XP_016877775.1:n.*8111A>G
XM_017022287.1:c.*8111A>G (MYEF2)	XP_016877776.1:n.*8111A>G
XM_017022291.1:c.*8111A>G (MYEF2)	XP_016877780.1:n.*8111A>G
XM_017022292.1:c.*8111A>G (MYEF2)	XP_016877781.1:n.*8111A>G
XM_024449901.1:c.219T>C (SLC24A5)	XP_024305669.1:p.Val73=
NM_016132.5:c.*7956A>G (MYEF2) MANE Select	NP_057216.3:n.*7956A>G
NM_001301210.2:c.*7956A>G (MYEF2)	NP_001288139.2:n.*7956A>G
NM_205850.3:c.558T>C (SLC24A5) MANE Select	NP_995322.1:p.Val186=