Canonical Allele Identifier: CA361706471
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149360033G>C (hg19) chr5:g.149980470G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980470G>C , CM000667.2:g.149980470G>C GRCh38
NC_000005.9:g.149360033G>C , CM000667.1:g.149360033G>C GRCh37
NC_000005.8:g.149340226G>C NCBI36
NG_007147.2:g.21588G>C , LRG_684:g.21588G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.877G>C MANE Select ENSP00000286298.4:p.Val293Leu
ENST00000286298.4:c.877G>C ENSP00000286298.4:p.Val293Leu
ENST00000503336.1:c.372+2119G>C ENSP00000426053.1:n.372+2119G>C
NM_000112.3:c.877G>C , LRG_684t1:c.877G>C NP_000103.2:p.Val293Leu
XM_017009191.2:c.877G>C XP_016864680.1:p.Val293Leu
NM_000112.4:c.877G>C MANE Select NP_000103.2:p.Val293Leu
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