Canonical Allele Identifier: CA890936445
Gene: SLC19A2 HGNC NCBI

Linked Data

dbSNP Id: rs1166859157
gnomAD v4: 1-169485506-TGCCCACCCGCAGGCCGGTC-T
MyVariant Identifiers: chr1:g.169454745_169454763del (hg19) chr1:g.169485507_169485525del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485511_169485529del , CM000663.2:g.169485511_169485529del GRCh38
NC_000001.10:g.169454749_169454767del , CM000663.1:g.169454749_169454767del GRCh37
NC_000001.9:g.167721373_167721391del NCBI36
NG_008255.1:g.5446_5464del

Transcript Alleles

HGVS Amino-acid change
ENST00000236137.10:c.204+38_204+56del MANE Select ENSP00000236137.5:n.204+38_204+56del
ENST00000646596.1:c.204+38_204+56del ENSP00000494404.1:n.204+38_204+56del
ENST00000236137.9:c.204+38_204+56del ENSP00000236137.5:n.204+38_204+56del
ENST00000367804.4:c.204+38_204+56del ENSP00000356778.3:n.204+38_204+56del
NM_006996.2:c.204+38_204+56del NP_008927.1:n.204+38_204+56del
XM_011509076.1:c.12+528_12+546del XP_011507378.1:n.12+528_12+546del
XM_011509077.1:c.204+38_204+56del XP_011507379.1:n.204+38_204+56del
NM_001319667.1:c.204+38_204+56del NP_001306596.1:n.204+38_204+56del
NM_006996.3:c.204+38_204+56del MANE Select NP_008927.1:n.204+38_204+56del
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