Canonical Allele Identifier: CA361706652
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149360117C>G (hg19) chr5:g.149980554C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980554C>G , CM000667.2:g.149980554C>G GRCh38
NC_000005.9:g.149360117C>G , CM000667.1:g.149360117C>G GRCh37
NC_000005.8:g.149340310C>G NCBI36
NG_007147.2:g.21672C>G , LRG_684:g.21672C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.961C>G MANE Select ENSP00000286298.4:p.Leu321Val
ENST00000286298.4:c.961C>G ENSP00000286298.4:p.Leu321Val
ENST00000503336.1:c.372+2203C>G ENSP00000426053.1:n.372+2203C>G
NM_000112.3:c.961C>G , LRG_684t1:c.961C>G NP_000103.2:p.Leu321Val
XM_017009191.2:c.961C>G XP_016864680.1:p.Leu321Val
NM_000112.4:c.961C>G MANE Select NP_000103.2:p.Leu321Val
Search 100 bp 5'
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