Canonical Allele Identifier: CA3505520
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 962984
ClinVar RCV Id: RCV001236938 RCV003473813
dbSNP Id: rs774648833
ExAC: 5:149361105 TG / T
gnomAD v2: 5-149361105-TG-T
gnomAD v3: 5-149981542-TG-T
gnomAD v4: 5-149981542-TG-T
MyVariant Identifiers: chr5:g.149361106del (hg19) chr5:g.149981543del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981543del , CM000667.2:g.149981543del GRCh38
NC_000005.9:g.149361106del , CM000667.1:g.149361106del GRCh37
NC_000005.8:g.149341299del NCBI36
NG_007147.2:g.22661del , LRG_684:g.22661del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1950del MANE Select ENSP00000286298.4:p.Ile651LeufsTer9
ENST00000286298.4:c.1950del ENSP00000286298.4:p.Ile651LeufsTer9
ENST00000503336.1:c.372+3192del ENSP00000426053.1:n.372+3192del
NM_000112.3:c.1950del , LRG_684t1:c.1950del NP_000103.2:p.Ile651LeufsTer9
XM_017009191.2:c.1950del XP_016864680.1:p.Ile651LeufsTer9
NM_000112.4:c.1950del MANE Select NP_000103.2:p.Ile651LeufsTer9
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