Canonical Allele Identifier: CA805532904
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1255627363
gnomAD v3: 5-149981855-AT-A
gnomAD v4: 5-149981855-AT-A
MyVariant Identifiers: chr5:g.149361419del (hg19) chr5:g.149981856del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981858del , CM000667.2:g.149981858del GRCh38
NC_000005.9:g.149361421del , CM000667.1:g.149361421del GRCh37
NC_000005.8:g.149341614del NCBI36
NG_007147.2:g.22976del , LRG_684:g.22976del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*45del MANE Select ENSP00000286298.4:n.*45del
ENST00000286298.4:c.*45del ENSP00000286298.4:n.*45del
ENST00000503336.1:c.372+3507del ENSP00000426053.1:n.372+3507del
NM_000112.3:c.*45del , LRG_684t1:c.*45del NP_000103.2:n.*45del
XM_017009191.2:c.*12+33del XP_016864680.1:n.*12+33del
NM_000112.4:c.*45del MANE Select NP_000103.2:n.*45del
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