Canonical Allele Identifier: CA563955689
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1174821568
gnomAD v2: 5-149360431-TATC-T
gnomAD v4: 5-149980868-TATC-T
MyVariant Identifiers: chr5:g.149360432_149360434del (hg19) chr5:g.149980869_149980871del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980872_149980874del , CM000667.2:g.149980872_149980874del GRCh38
NC_000005.9:g.149360435_149360437del , CM000667.1:g.149360435_149360437del GRCh37
NC_000005.8:g.149340628_149340630del NCBI36
NG_007147.2:g.21990_21992del , LRG_684:g.21990_21992del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1279_1281del MANE Select ENSP00000286298.4:p.Ile427del
ENST00000286298.4:c.1279_1281del ENSP00000286298.4:p.Ile427del
ENST00000503336.1:c.372+2521_372+2523del ENSP00000426053.1:n.372+2521_372+2523del
NM_000112.3:c.1279_1281del , LRG_684t1:c.1279_1281del NP_000103.2:p.Ile427del
XM_017009191.2:c.1279_1281del XP_016864680.1:p.Ile427del
NM_000112.4:c.1279_1281del MANE Select NP_000103.2:p.Ile427del
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