Canonical Allele Identifier: CA3505204
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2062726
ClinVar RCV Id: RCV002957958
dbSNP Id: rs376023150
ExAC: 5:149357332 C / G
gnomAD v2: 5-149357332-C-G
gnomAD v3: 5-149977769-C-G
gnomAD v4: 5-149977769-C-G
MyVariant Identifiers: chr5:g.149357332C>G (hg19) chr5:g.149977769C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977769C>G , CM000667.2:g.149977769C>G GRCh38
NC_000005.9:g.149357332C>G , CM000667.1:g.149357332C>G GRCh37
NC_000005.8:g.149337525C>G NCBI36
NG_007147.2:g.18887C>G , LRG_684:g.18887C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.349C>G
ENST00000286298.5:c.117C>G MANE Select ENSP00000286298.4:p.Phe39Leu
ENST00000286298.4:c.117C>G ENSP00000286298.4:p.Phe39Leu
NM_000112.3:c.117C>G , LRG_684t1:c.117C>G NP_000103.2:p.Phe39Leu
XM_017009191.2:c.117C>G XP_016864680.1:p.Phe39Leu
NM_000112.4:c.117C>G MANE Select NP_000103.2:p.Phe39Leu
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