Canonical Allele Identifier: CA361709672
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149361191A>C (hg19) chr5:g.149981628A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981628A>C , CM000667.2:g.149981628A>C GRCh38
NC_000005.9:g.149361191A>C , CM000667.1:g.149361191A>C GRCh37
NC_000005.8:g.149341384A>C NCBI36
NG_007147.2:g.22746A>C , LRG_684:g.22746A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.2035A>C MANE Select ENSP00000286298.4:p.Ile679Leu
ENST00000286298.4:c.2035A>C ENSP00000286298.4:p.Ile679Leu
ENST00000503336.1:c.372+3277A>C ENSP00000426053.1:n.372+3277A>C
NM_000112.3:c.2035A>C , LRG_684t1:c.2035A>C NP_000103.2:p.Ile679Leu
XM_017009191.2:c.2035A>C XP_016864680.1:p.Ile679Leu
NM_000112.4:c.2035A>C MANE Select NP_000103.2:p.Ile679Leu
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