Canonical Allele Identifier: CA222960

Gene: SLC16A2

Linked Data

• ClinVar Variation Id: 95421
• ClinVar RCV Id: RCV001251643 ; RCV003905062 ; RCV000514434 ; RCV001087210 ; RCV001847654 ; RCV002362728
• dbSNP Id: rs145061343
• ExAC: X:73641884 C / G
• gnomAD v2: X-73641884-C-G
• gnomAD v3: X-74422049-C-G
• gnomAD v4: X-74422049-C-G
• MyVariant Identifiers: chrX:g.73641884C>G (hg19) ; chrX:g.74422049C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74422049C>G , CM000685.2:g.74422049C>G	GRCh38
NC_000023.10:g.73641884C>G , CM000685.1:g.73641884C>G	GRCh37
NC_000023.9:g.73558609C>G	NCBI36
NG_011641.1:g.5800C>G
NG_011641.2:g.5800C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587091.6:c.412C>G MANE Select	ENSP00000465734.1:p.Gln138Glu
ENST00000636771.1:c.158C>G
ENST00000587091.5:c.412C>G	ENSP00000465734.1:p.Gln138Glu
NM_006517.4:c.412C>G	NP_006508.2:p.Gln138Glu
XM_005262294.1:c.412C>G	XP_005262351.1:p.Gln138Glu
XM_011531015.1:c.412C>G	XP_011529317.1:p.Gln138Glu
NM_006517.5:c.412C>G MANE Select	NP_006508.2:p.Gln138Glu