Canonical Allele Identifier: CA361705075
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149357693A>C (hg19) chr5:g.149978130A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978130A>C , CM000667.2:g.149978130A>C GRCh38
NC_000005.9:g.149357693A>C , CM000667.1:g.149357693A>C GRCh37
NC_000005.8:g.149337886A>C NCBI36
NG_007147.2:g.19248A>C , LRG_684:g.19248A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.710A>C
ENST00000286298.5:c.478A>C MANE Select ENSP00000286298.4:p.Ile160Leu
ENST00000286298.4:c.478A>C ENSP00000286298.4:p.Ile160Leu
ENST00000503336.1:c.151A>C ENSP00000426053.1:p.Ile51Leu
NM_000112.3:c.478A>C , LRG_684t1:c.478A>C NP_000103.2:p.Ile160Leu
XM_017009191.2:c.478A>C XP_016864680.1:p.Ile160Leu
NM_000112.4:c.478A>C MANE Select NP_000103.2:p.Ile160Leu
Search 100 bp 5'
Search 100 bp 3'