Canonical Allele Identifier: CA878059478

Gene: SLC16A2

Linked Data

• dbSNP Id: rs1479784111
• gnomAD v3: X-74525694-C-T
• gnomAD v4: X-74525694-C-T
• MyVariant Identifiers: chrX:g.73745529C>T (hg19) ; chrX:g.74525694C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74525694C>T , CM000685.2:g.74525694C>T	GRCh38
NC_000023.10:g.73745529C>T , CM000685.1:g.73745529C>T	GRCh37
NC_000023.9:g.73662254C>T	NCBI36
NG_011641.1:g.109445C>T
NG_011641.2:g.109445C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587091.6:c.1027-56C>T MANE Select	ENSP00000465734.1:n.1027-56C>T
ENST00000636771.1:c.936-56C>T
ENST00000587091.5:c.1027-56C>T	ENSP00000465734.1:n.1027-56C>T
ENST00000590447.1:c.467-56C>T
NM_006517.4:c.1027-56C>T	NP_006508.2:n.1027-56C>T
XM_005262294.1:c.1027-56C>T	XP_005262351.1:n.1027-56C>T
XM_011531015.1:c.*31-56C>T	XP_011529317.1:n.*31-56C>T
NM_006517.5:c.1027-56C>T MANE Select	NP_006508.2:n.1027-56C>T