Canonical Allele Identifier: CA7545895

Gene: MYEF2 SLC24A5

Linked Data

• dbSNP Id: rs770538169
• ExAC: 15:48427069 A / G
• gnomAD v2: 15-48427069-A-G
• gnomAD v3: 15-48134872-A-G
• gnomAD v4: 15-48134872-A-G
• MyVariant Identifiers: chr15:g.48427069A>G (hg19) ; chr15:g.48134872A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134872A>G , CM000677.2:g.48134872A>G	GRCh38
NC_000015.9:g.48427069A>G , CM000677.1:g.48427069A>G	GRCh37
NC_000015.8:g.46214361A>G	NCBI36
NG_011500.1:g.18901A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324324.12:c.*8036T>C (MYEF2) MANE Select	ENSP00000316950.7:n.*8036T>C
ENST00000341459.8:c.490-12A>G (SLC24A5) MANE Select	ENSP00000341550.3:n.490-12A>G
ENST00000324324.11:c.*8036T>C (MYEF2)	ENSP00000316950.7:n.*8036T>C
ENST00000341459.7:c.490-12A>G (SLC24A5)	ENSP00000341550.3:n.490-12A>G
ENST00000449382.2:c.310-12A>G (SLC24A5)	ENSP00000389966.2:n.310-12A>G
ENST00000463289.1:n.250-12A>G (SLC24A5)
NM_205850.2:c.490-12A>G (SLC24A5)	NP_995322.1:n.490-12A>G
XM_011521458.1:c.511-12A>G (SLC24A5)	XP_011519760.1:n.511-12A>G
XM_005254425.4:c.*8191T>C (MYEF2)	XP_005254482.2:n.*8191T>C
XM_017022079.1:c.244-12A>G (SLC24A5)	XP_016877568.1:n.244-12A>G
XM_017022080.1:c.244-12A>G (SLC24A5)	XP_016877569.1:n.244-12A>G
XM_017022285.1:c.*8191T>C (MYEF2)	XP_016877774.1:n.*8191T>C
XM_017022286.1:c.*8191T>C (MYEF2)	XP_016877775.1:n.*8191T>C
XM_017022287.1:c.*8191T>C (MYEF2)	XP_016877776.1:n.*8191T>C
XM_017022291.1:c.*8191T>C (MYEF2)	XP_016877780.1:n.*8191T>C
XM_017022292.1:c.*8191T>C (MYEF2)	XP_016877781.1:n.*8191T>C
XM_024449901.1:c.151-12A>G (SLC24A5)	XP_024305669.1:n.151-12A>G
NM_016132.5:c.*8036T>C (MYEF2) MANE Select	NP_057216.3:n.*8036T>C
NM_001301210.2:c.*8036T>C (MYEF2)	NP_001288139.2:n.*8036T>C
NM_205850.3:c.490-12A>G (SLC24A5) MANE Select	NP_995322.1:n.490-12A>G