Canonical Allele Identifier: CA361707917
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149360618A>T (hg19) chr5:g.149981055A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981055A>T , CM000667.2:g.149981055A>T GRCh38
NC_000005.9:g.149360618A>T , CM000667.1:g.149360618A>T GRCh37
NC_000005.8:g.149340811A>T NCBI36
NG_007147.2:g.22173A>T , LRG_684:g.22173A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1462A>T MANE Select ENSP00000286298.4:p.Ile488Phe
ENST00000286298.4:c.1462A>T ENSP00000286298.4:p.Ile488Phe
ENST00000503336.1:c.372+2704A>T ENSP00000426053.1:n.372+2704A>T
NM_000112.3:c.1462A>T , LRG_684t1:c.1462A>T NP_000103.2:p.Ile488Phe
XM_017009191.2:c.1462A>T XP_016864680.1:p.Ile488Phe
NM_000112.4:c.1462A>T MANE Select NP_000103.2:p.Ile488Phe
Search 100 bp 5'
Search 100 bp 3'