Canonical Allele Identifier: CA2628304709

Gene: MYEF2 SLC24A5

Linked Data

• gnomAD v4: 15-48134766-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134766C>A , CM000677.2:g.48134766C>A	GRCh38
NC_000015.9:g.48426963C>A , CM000677.1:g.48426963C>A	GRCh37
NC_000015.8:g.46214255C>A	NCBI36
NG_011500.1:g.18795C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324324.12:c.*8142G>T (MYEF2) MANE Select	ENSP00000316950.7:n.*8142G>T
ENST00000341459.8:c.490-118C>A (SLC24A5) MANE Select	ENSP00000341550.3:n.490-118C>A
ENST00000324324.11:c.*8142G>T (MYEF2)	ENSP00000316950.7:n.*8142G>T
ENST00000341459.7:c.490-118C>A (SLC24A5)	ENSP00000341550.3:n.490-118C>A
ENST00000449382.2:c.310-118C>A (SLC24A5)	ENSP00000389966.2:n.310-118C>A
ENST00000463289.1:n.250-118C>A (SLC24A5)
NM_205850.2:c.490-118C>A (SLC24A5)	NP_995322.1:n.490-118C>A
XM_011521458.1:c.511-118C>A (SLC24A5)	XP_011519760.1:n.511-118C>A
XM_005254425.4:c.*8297G>T (MYEF2)	XP_005254482.2:n.*8297G>T
XM_017022079.1:c.244-118C>A (SLC24A5)	XP_016877568.1:n.244-118C>A
XM_017022080.1:c.244-118C>A (SLC24A5)	XP_016877569.1:n.244-118C>A
XM_017022285.1:c.*8297G>T (MYEF2)	XP_016877774.1:n.*8297G>T
XM_017022286.1:c.*8297G>T (MYEF2)	XP_016877775.1:n.*8297G>T
XM_017022287.1:c.*8297G>T (MYEF2)	XP_016877776.1:n.*8297G>T
XM_017022291.1:c.*8297G>T (MYEF2)	XP_016877780.1:n.*8297G>T
XM_017022292.1:c.*8297G>T (MYEF2)	XP_016877781.1:n.*8297G>T
XM_024449901.1:c.151-118C>A (SLC24A5)	XP_024305669.1:n.151-118C>A
NM_016132.5:c.*8142G>T (MYEF2) MANE Select	NP_057216.3:n.*8142G>T
NM_001301210.2:c.*8142G>T (MYEF2)	NP_001288139.2:n.*8142G>T
NM_205850.3:c.490-118C>A (SLC24A5) MANE Select	NP_995322.1:n.490-118C>A