Canonical Allele Identifier: CA2580073910
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2100679
ClinVar RCV Id: RCV003014521
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980433dup , CM000667.2:g.149980433dup GRCh38
NC_000005.9:g.149359996dup , CM000667.1:g.149359996dup GRCh37
NC_000005.8:g.149340189dup NCBI36
NG_007147.2:g.21551dup , LRG_684:g.21551dup

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.840dup MANE Select ENSP00000286298.4:p.Asn281Ter
ENST00000286298.4:c.840dup ENSP00000286298.4:p.Asn281Ter
ENST00000503336.1:c.372+2082dup ENSP00000426053.1:n.372+2082dup
NM_000112.3:c.840dup , LRG_684t1:c.840dup NP_000103.2:p.Asn281Ter
XM_017009191.2:c.840dup XP_016864680.1:p.Asn281Ter
NM_000112.4:c.840dup MANE Select NP_000103.2:p.Asn281Ter
Search 100 bp 5'
Search 100 bp 3'