Canonical Allele Identifier: CA277240
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 212192
ClinVar RCV Id: RCV000193992
dbSNP Id: rs797045966
MyVariant Identifiers: chrX:g.73641846del (hg19) chrX:g.74422011del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74422011del , CM000685.2:g.74422011del GRCh38
NC_000023.10:g.73641846del , CM000685.1:g.73641846del GRCh37
NC_000023.9:g.73558571del NCBI36
NG_011641.1:g.5762del
NG_011641.2:g.5762del

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.374del MANE Select ENSP00000465734.1:p.Tyr125SerfsTer5
ENST00000636771.1:c.120del
ENST00000587091.5:c.374del ENSP00000465734.1:p.Tyr125SerfsTer5
NM_006517.4:c.374del NP_006508.2:p.Tyr125SerfsTer5
XM_005262294.1:c.374del XP_005262351.1:p.Tyr125SerfsTer5
XM_011531015.1:c.374del XP_011529317.1:p.Tyr125SerfsTer5
NM_006517.5:c.374del MANE Select NP_006508.2:p.Tyr125SerfsTer5
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