Canonical Allele Identifier: CA129082300
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs747452414
gnomAD v4: 5-149977864-T-C
MyVariant Identifiers: chr5:g.149357427T>C (hg19) chr5:g.149977864T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977864T>C , CM000667.2:g.149977864T>C GRCh38
NC_000005.9:g.149357427T>C , CM000667.1:g.149357427T>C GRCh37
NC_000005.8:g.149337620T>C NCBI36
NG_007147.2:g.18982T>C , LRG_684:g.18982T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.444T>C
ENST00000286298.5:c.212T>C MANE Select ENSP00000286298.4:p.Ile71Thr
ENST00000286298.4:c.212T>C ENSP00000286298.4:p.Ile71Thr
NM_000112.3:c.212T>C , LRG_684t1:c.212T>C NP_000103.2:p.Ile71Thr
XM_017009191.2:c.212T>C XP_016864680.1:p.Ile71Thr
NM_000112.4:c.212T>C MANE Select NP_000103.2:p.Ile71Thr
Search 100 bp 5'
Search 100 bp 3'