Canonical Allele Identifier: CA234943

Gene: SLC16A2

Linked Data

• ClinVar Variation Id: 167692
• ClinVar RCV Id: RCV000153955 ; RCV000723786 ; RCV001080009 ; RCV001847786 ; RCV002316973
• dbSNP Id: rs199904356
• ExAC: X:73751364 C / T
• gnomAD v2: X-73751364-C-T
• gnomAD v3: X-74531529-C-T
• gnomAD v4: X-74531529-C-T
• MyVariant Identifiers: chrX:g.73751364C>T (hg19) ; chrX:g.74531529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74531529C>T , CM000685.2:g.74531529C>T	GRCh38
NC_000023.10:g.73751364C>T , CM000685.1:g.73751364C>T	GRCh37
NC_000023.9:g.73668089C>T	NCBI36
NG_011641.1:g.115280C>T
NG_011641.2:g.115280C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587091.6:c.1596C>T MANE Select	ENSP00000465734.1:p.Ser532=
ENST00000636771.1:c.1505C>T
ENST00000587091.5:c.1596C>T	ENSP00000465734.1:p.Ser532=
ENST00000590447.1:c.807C>T
NM_006517.4:c.1596C>T	NP_006508.2:p.Ser532=
XM_005262294.1:c.*119C>T	XP_005262351.1:n.*119C>T
NM_006517.5:c.1596C>T MANE Select	NP_006508.2:p.Ser532=