Canonical Allele Identifier: CA643005916
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1602099819
gnomAD v2: X-73641711-CGCCTACGGTA-C
MyVariant Identifiers: chrX:g.73641712_73641721del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421878_74421887del , CM000685.2:g.74421878_74421887del GRCh38
NC_000023.10:g.73641713_73641722del , CM000685.1:g.73641713_73641722del GRCh37
NC_000023.9:g.73558438_73558447del NCBI36
NG_011641.1:g.5629_5638del
NG_011641.2:g.5629_5638del

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.241_250del MANE Select ENSP00000465734.1:p.Pro81ArgfsTer?
ENST00000587091.5:c.241_250del ENSP00000465734.1:p.Pro81ArgfsTer?
NM_006517.4:c.241_250del NP_006508.2:p.Pro81ArgfsTer?
XM_005262294.1:c.241_250del XP_005262351.1:p.Pro81ArgfsTer?
XM_011531015.1:c.241_250del XP_011529317.1:p.Pro81ArgfsTer?
NM_006517.5:c.241_250del MANE Select NP_006508.2:p.Pro81ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'