Canonical Allele Identifier: CA361705518
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149357898T>G (hg19) chr5:g.149978335T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978335T>G , CM000667.2:g.149978335T>G GRCh38
NC_000005.9:g.149357898T>G , CM000667.1:g.149357898T>G GRCh37
NC_000005.8:g.149338091T>G NCBI36
NG_007147.2:g.19453T>G , LRG_684:g.19453T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.915T>G
ENST00000286298.5:c.683T>G MANE Select ENSP00000286298.4:p.Ile228Arg
ENST00000286298.4:c.683T>G ENSP00000286298.4:p.Ile228Arg
ENST00000503336.1:c.356T>G ENSP00000426053.1:p.Ile119Arg
NM_000112.3:c.683T>G , LRG_684t1:c.683T>G NP_000103.2:p.Ile228Arg
XM_017009191.2:c.683T>G XP_016864680.1:p.Ile228Arg
NM_000112.4:c.683T>G MANE Select NP_000103.2:p.Ile228Arg
Search 100 bp 5'
Search 100 bp 3'