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: CA361706180
Gene: SLC26A2 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980342A>G , CM000667.2:g.149980342A>G GRCh38
NC_000005.9:g.149359905A>G , CM000667.1:g.149359905A>G GRCh37
NC_000005.8:g.149340098A>G NCBI36
NG_007147.2:g.21460A>G , LRG_684:g.21460A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.749A>G MANE Select ENSP00000286298.4:p.Asp250Gly
ENST00000286298.4:c.749A>G ENSP00000286298.4:p.Asp250Gly
ENST00000503336.1:c.372+1991A>G ENSP00000426053.1:n.372+1991A>G
NM_000112.3:c.749A>G , LRG_684t1:c.749A>G NP_000103.2:p.Asp250Gly
XM_017009191.2:c.749A>G XP_016864680.1:p.Asp250Gly
NM_000112.4:c.749A>G MANE Select NP_000103.2:p.Asp250Gly