Canonical Allele Identifier: CA2575714862

Gene: MYEF2 SLC24A5

Linked Data

• gnomAD v4: 15-48134866-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134866T>C , CM000677.2:g.48134866T>C	GRCh38
NC_000015.9:g.48427063T>C , CM000677.1:g.48427063T>C	GRCh37
NC_000015.8:g.46214355T>C	NCBI36
NG_011500.1:g.18895T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324324.12:c.*8042A>G (MYEF2) MANE Select	ENSP00000316950.7:n.*8042A>G
ENST00000341459.8:c.490-18T>C (SLC24A5) MANE Select	ENSP00000341550.3:n.490-18T>C
ENST00000324324.11:c.*8042A>G (MYEF2)	ENSP00000316950.7:n.*8042A>G
ENST00000341459.7:c.490-18T>C (SLC24A5)	ENSP00000341550.3:n.490-18T>C
ENST00000449382.2:c.310-18T>C (SLC24A5)	ENSP00000389966.2:n.310-18T>C
ENST00000463289.1:n.250-18T>C (SLC24A5)
NM_205850.2:c.490-18T>C (SLC24A5)	NP_995322.1:n.490-18T>C
XM_011521458.1:c.511-18T>C (SLC24A5)	XP_011519760.1:n.511-18T>C
XM_005254425.4:c.*8197A>G (MYEF2)	XP_005254482.2:n.*8197A>G
XM_017022079.1:c.244-18T>C (SLC24A5)	XP_016877568.1:n.244-18T>C
XM_017022080.1:c.244-18T>C (SLC24A5)	XP_016877569.1:n.244-18T>C
XM_017022285.1:c.*8197A>G (MYEF2)	XP_016877774.1:n.*8197A>G
XM_017022286.1:c.*8197A>G (MYEF2)	XP_016877775.1:n.*8197A>G
XM_017022287.1:c.*8197A>G (MYEF2)	XP_016877776.1:n.*8197A>G
XM_017022291.1:c.*8197A>G (MYEF2)	XP_016877780.1:n.*8197A>G
XM_017022292.1:c.*8197A>G (MYEF2)	XP_016877781.1:n.*8197A>G
XM_024449901.1:c.151-18T>C (SLC24A5)	XP_024305669.1:n.151-18T>C
NM_016132.5:c.*8042A>G (MYEF2) MANE Select	NP_057216.3:n.*8042A>G
NM_001301210.2:c.*8042A>G (MYEF2)	NP_001288139.2:n.*8042A>G
NM_205850.3:c.490-18T>C (SLC24A5) MANE Select	NP_995322.1:n.490-18T>C