Canonical Allele Identifier: CA517464587
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 694739
ClinVar RCV Id: RCV000856825 RCV001869313
dbSNP Id: rs1602099961
COSMIC: COSM6039909
MyVariant Identifiers: chrX:g.73641879dup (hg19) chrX:g.73641872_73641873insA (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74422044dup , CM000685.2:g.74422044dup GRCh38
NC_000023.10:g.73641879dup , CM000685.1:g.73641879dup GRCh37
NC_000023.9:g.73558604dup NCBI36
NG_011641.1:g.5795dup
NG_011641.2:g.5795dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.407dup MANE Select ENSP00000465734.1:p.Asn136LysfsTer31
ENST00000636771.1:c.153dup
ENST00000587091.5:c.407dup ENSP00000465734.1:p.Asn136LysfsTer31
NM_006517.4:c.407dup NP_006508.2:p.Asn136LysfsTer31
XM_005262294.1:c.407dup XP_005262351.1:p.Asn136LysfsTer31
XM_011531015.1:c.407dup XP_011529317.1:p.Asn136LysfsTer31
NM_006517.5:c.407dup MANE Select NP_006508.2:p.Asn136LysfsTer31
Search 100 bp 5'
Search 100 bp 3'