Canonical Allele Identifier: CA447402271
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149360203T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980640T>C , CM000667.2:g.149980640T>C GRCh38
NC_000005.9:g.149360203T>C , CM000667.1:g.149360203T>C GRCh37
NC_000005.8:g.149340396T>C NCBI36
NG_007147.2:g.21758T>C , LRG_684:g.21758T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1047T>C MANE Select ENSP00000286298.4:p.Phe349=
ENST00000286298.4:c.1047T>C ENSP00000286298.4:p.Phe349=
ENST00000503336.1:c.372+2289T>C ENSP00000426053.1:n.372+2289T>C
NM_000112.3:c.1047T>C , LRG_684t1:c.1047T>C NP_000103.2:p.Phe349=
XM_017009191.2:c.1047T>C XP_016864680.1:p.Phe349=
NM_000112.4:c.1047T>C MANE Select NP_000103.2:p.Phe349=
Search 100 bp 5'
Search 100 bp 3'