Canonical Allele Identifier: CA3505248
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1155921
ClinVar RCV Id: RCV001498399 RCV003738082
dbSNP Id: rs201012489
ExAC: 5:149357654 G / T
gnomAD v2: 5-149357654-G-T
gnomAD v3: 5-149978091-G-T
gnomAD v4: 5-149978091-G-T
MyVariant Identifiers: chr5:g.149357654G>T (hg19) chr5:g.149978091G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978091G>T , CM000667.2:g.149978091G>T GRCh38
NC_000005.9:g.149357654G>T , CM000667.1:g.149357654G>T GRCh37
NC_000005.8:g.149337847G>T NCBI36
NG_007147.2:g.19209G>T , LRG_684:g.19209G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.671G>T
ENST00000286298.5:c.439G>T MANE Select ENSP00000286298.4:p.Ala147Ser
ENST00000286298.4:c.439G>T ENSP00000286298.4:p.Ala147Ser
ENST00000503336.1:c.112G>T ENSP00000426053.1:p.Ala38Ser
NM_000112.3:c.439G>T , LRG_684t1:c.439G>T NP_000103.2:p.Ala147Ser
XM_017009191.2:c.439G>T XP_016864680.1:p.Ala147Ser
NM_000112.4:c.439G>T MANE Select NP_000103.2:p.Ala147Ser
Search 100 bp 5'
Search 100 bp 3'