Canonical Allele Identifier: CA2675943656
Gene: SLC26A2 HGNC NCBI

Linked Data

gnomAD v4: 5-149981480-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981482del , CM000667.2:g.149981482del GRCh38
NC_000005.9:g.149361045del , CM000667.1:g.149361045del GRCh37
NC_000005.8:g.149341238del NCBI36
NG_007147.2:g.22600del , LRG_684:g.22600del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1889del MANE Select ENSP00000286298.4:p.Gly630GlufsTer20
ENST00000286298.4:c.1889del ENSP00000286298.4:p.Gly630GlufsTer20
ENST00000503336.1:c.372+3131del ENSP00000426053.1:n.372+3131del
NM_000112.3:c.1889del , LRG_684t1:c.1889del NP_000103.2:p.Gly630GlufsTer20
XM_017009191.2:c.1889del XP_016864680.1:p.Gly630GlufsTer20
NM_000112.4:c.1889del MANE Select NP_000103.2:p.Gly630GlufsTer20
Search 100 bp 5'
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