Canonical Allele Identifier: CA658823315
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 558414
ClinVar RCV Id: RCV000674679
dbSNP Id: rs1554095381
MyVariant Identifiers: chr5:g.149981452del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981452del , CM000667.2:g.149981452del GRCh38
NC_000005.9:g.149361015del , CM000667.1:g.149361015del GRCh37
NC_000005.8:g.149341208del NCBI36
NG_007147.2:g.22570del , LRG_684:g.22570del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1859del MANE Select ENSP00000286298.4:p.Lys620ArgfsTer6
ENST00000286298.4:c.1859del ENSP00000286298.4:p.Lys620ArgfsTer6
ENST00000503336.1:c.372+3101del ENSP00000426053.1:n.372+3101del
NM_000112.3:c.1859del , LRG_684t1:c.1859del NP_000103.2:p.Lys620ArgfsTer6
XM_017009191.2:c.1859del XP_016864680.1:p.Lys620ArgfsTer6
NM_000112.4:c.1859del MANE Select NP_000103.2:p.Lys620ArgfsTer6
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