Canonical Allele Identifier: CA361707760
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149360541T>A (hg19) chr5:g.149980978T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980978T>A , CM000667.2:g.149980978T>A GRCh38
NC_000005.9:g.149360541T>A , CM000667.1:g.149360541T>A GRCh37
NC_000005.8:g.149340734T>A NCBI36
NG_007147.2:g.22096T>A , LRG_684:g.22096T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.1385T>A MANE Select ENSP00000286298.4:p.Leu462Gln
ENST00000286298.4:c.1385T>A ENSP00000286298.4:p.Leu462Gln
ENST00000503336.1:c.372+2627T>A ENSP00000426053.1:n.372+2627T>A
NM_000112.3:c.1385T>A , LRG_684t1:c.1385T>A NP_000103.2:p.Leu462Gln
XM_017009191.2:c.1385T>A XP_016864680.1:p.Leu462Gln
NM_000112.4:c.1385T>A MANE Select NP_000103.2:p.Leu462Gln
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