This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA361706182
Gene: SLC26A2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.149980343T>A
GRCh37 chr5:g.149359906T>A
Revel Score:
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980343T>A , CM000667.2:g.149980343T>A GRCh38
NC_000005.9:g.149359906T>A , CM000667.1:g.149359906T>A GRCh37
NC_000005.8:g.149340099T>A NCBI36
NG_007147.2:g.21461T>A , LRG_684:g.21461T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.750T>A MANE Select ENSP00000286298.4:p.Asp250Glu
ENST00000286298.4:c.750T>A ENSP00000286298.4:p.Asp250Glu
ENST00000503336.1:c.372+1992T>A ENSP00000426053.1:n.372+1992T>A
NM_000112.3:c.750T>A , LRG_684t1:c.750T>A NP_000103.2:p.Asp250Glu
XM_017009191.2:c.750T>A XP_016864680.1:p.Asp250Glu
NM_000112.4:c.750T>A MANE Select NP_000103.2:p.Asp250Glu
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