Canonical Allele Identifier: CA878059473

Gene: SLC16A2

Linked Data

• dbSNP Id: rs1376379399
• gnomAD v3: X-74525683-C-G
• gnomAD v4: X-74525683-C-G
• MyVariant Identifiers: chrX:g.73745518C>G (hg19) ; chrX:g.74525683C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74525683C>G , CM000685.2:g.74525683C>G	GRCh38
NC_000023.10:g.73745518C>G , CM000685.1:g.73745518C>G	GRCh37
NC_000023.9:g.73662243C>G	NCBI36
NG_011641.1:g.109434C>G
NG_011641.2:g.109434C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587091.6:c.1027-67C>G MANE Select	ENSP00000465734.1:n.1027-67C>G
ENST00000636771.1:c.936-67C>G
ENST00000587091.5:c.1027-67C>G	ENSP00000465734.1:n.1027-67C>G
ENST00000590447.1:c.467-67C>G
NM_006517.4:c.1027-67C>G	NP_006508.2:n.1027-67C>G
XM_005262294.1:c.1027-67C>G	XP_005262351.1:n.1027-67C>G
XM_011531015.1:c.*31-67C>G	XP_011529317.1:n.*31-67C>G
NM_006517.5:c.1027-67C>G MANE Select	NP_006508.2:n.1027-67C>G