Canonical Allele Identifier: CA10454507
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1202449
ClinVar RCV Id: RCV001568128 RCV002569042 RCV003346618
dbSNP Id: rs773263889
ExAC: X:73749081 A / T
gnomAD v2: X-73749081-A-T
gnomAD v3: X-74529246-A-T
gnomAD v4: X-74529246-A-T
MyVariant Identifiers: chrX:g.73749081A>T (hg19) chrX:g.74529246A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74529246A>T , CM000685.2:g.74529246A>T GRCh38
NC_000023.10:g.73749081A>T , CM000685.1:g.73749081A>T GRCh37
NC_000023.9:g.73665806A>T NCBI36
NG_011641.1:g.112997A>T
NG_011641.2:g.112997A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.1204A>T MANE Select ENSP00000465734.1:p.Met402Leu
ENST00000636771.1:c.1113A>T
ENST00000587091.5:c.1204A>T ENSP00000465734.1:p.Met402Leu
ENST00000590447.1:c.611-2087A>T
NM_006517.4:c.1204A>T NP_006508.2:p.Met402Leu
XM_005262294.1:c.1171-2087A>T XP_005262351.1:n.1171-2087A>T
NM_006517.5:c.1204A>T MANE Select NP_006508.2:p.Met402Leu
Search 100 bp 5'
Search 100 bp 3'