Canonical Allele Identifier: CA447401817
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1538119
ClinVar RCV Id: RCV002159681
dbSNP Id: rs1755020230
gnomAD v4: 5-149977868-A-G
MyVariant Identifiers: chr5:g.149357431A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977868A>G , CM000667.2:g.149977868A>G GRCh38
NC_000005.9:g.149357431A>G , CM000667.1:g.149357431A>G GRCh37
NC_000005.8:g.149337624A>G NCBI36
NG_007147.2:g.18986A>G , LRG_684:g.18986A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.448A>G
ENST00000286298.5:c.216A>G MANE Select ENSP00000286298.4:p.Lys72=
ENST00000286298.4:c.216A>G ENSP00000286298.4:p.Lys72=
NM_000112.3:c.216A>G , LRG_684t1:c.216A>G NP_000103.2:p.Lys72=
XM_017009191.2:c.216A>G XP_016864680.1:p.Lys72=
NM_000112.4:c.216A>G MANE Select NP_000103.2:p.Lys72=
Search 100 bp 5'
Search 100 bp 3'