Canonical Allele Identifier: CA2649031562
Gene: SLC19A2 HGNC NCBI

Linked Data

gnomAD v4: 1-169485589-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485593del , CM000663.2:g.169485593del GRCh38
NC_000001.10:g.169454831del , CM000663.1:g.169454831del GRCh37
NC_000001.9:g.167721455del NCBI36
NG_008255.1:g.5381del

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.177del MANE Select ENSP00000236137.5:p.Pro60ArgfsTer5
ENST00000646596.1:c.177del ENSP00000494404.1:p.Pro60ArgfsTer5
ENST00000236137.9:c.177del ENSP00000236137.5:p.Pro60ArgfsTer5
ENST00000367804.4:c.177del ENSP00000356778.3:p.Pro60ArgfsTer5
NM_006996.2:c.177del NP_008927.1:p.Pro60ArgfsTer5
XM_011509076.1:c.12+463del XP_011507378.1:n.12+463del
XM_011509077.1:c.177del XP_011507379.1:p.Pro60ArgfsTer5
NM_001319667.1:c.177del NP_001306596.1:p.Pro60ArgfsTer5
NM_006996.3:c.177del MANE Select NP_008927.1:p.Pro60ArgfsTer5
Search 100 bp 5'
Search 100 bp 3'