Canonical Allele Identifier: CA913108430
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149360970_149360971del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981407_149981408del , CM000667.2:g.149981407_149981408del GRCh38
NC_000005.9:g.149360970_149360971del , CM000667.1:g.149360970_149360971del GRCh37
NC_000005.8:g.149341163_149341164del NCBI36
NG_007147.2:g.22525_22526del , LRG_684:g.22525_22526del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1814_1815del MANE Select ENSP00000286298.4:p.Asn605ThrfsTer29
ENST00000286298.4:c.1814_1815del ENSP00000286298.4:p.Asn605ThrfsTer29
ENST00000503336.1:c.372+3056_372+3057del ENSP00000426053.1:n.372+3056_372+3057del
NM_000112.3:c.1814_1815del , LRG_684t1:c.1814_1815del NP_000103.2:p.Asn605ThrfsTer29
XM_017009191.2:c.1814_1815del XP_016864680.1:p.Asn605ThrfsTer29
NM_000112.4:c.1814_1815del MANE Select NP_000103.2:p.Asn605ThrfsTer29
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