Canonical Allele Identifier: CA3505415
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs756991292
ExAC: 5:149360437 CCCTT / C
gnomAD v2: 5-149360437-CCCTT-C
gnomAD v3: 5-149980874-CCCTT-C
gnomAD v4: 5-149980874-CCCTT-C
MyVariant Identifiers: chr5:g.149360438_149360441del (hg19) chr5:g.149980875_149980878del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980880_149980883del , CM000667.2:g.149980880_149980883del GRCh38
NC_000005.9:g.149360443_149360446del , CM000667.1:g.149360443_149360446del GRCh37
NC_000005.8:g.149340636_149340639del NCBI36
NG_007147.2:g.21998_22001del , LRG_684:g.21998_22001del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1287_1290del MANE Select ENSP00000286298.4:p.Phe430SerfsTer29
ENST00000286298.4:c.1287_1290del ENSP00000286298.4:p.Phe430SerfsTer29
ENST00000503336.1:c.372+2529_372+2532del ENSP00000426053.1:n.372+2529_372+2532del
NM_000112.3:c.1287_1290del , LRG_684t1:c.1287_1290del NP_000103.2:p.Phe430SerfsTer29
XM_017009191.2:c.1287_1290del XP_016864680.1:p.Phe430SerfsTer29
NM_000112.4:c.1287_1290del MANE Select NP_000103.2:p.Phe430SerfsTer29
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