Canonical Allele Identifier: CA3505250
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs780011803
ExAC: 5:149357677 G / C
gnomAD v2: 5-149357677-G-C
gnomAD v4: 5-149978114-G-C
MyVariant Identifiers: chr5:g.149357677G>C (hg19) chr5:g.149978114G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978114G>C , CM000667.2:g.149978114G>C GRCh38
NC_000005.9:g.149357677G>C , CM000667.1:g.149357677G>C GRCh37
NC_000005.8:g.149337870G>C NCBI36
NG_007147.2:g.19232G>C , LRG_684:g.19232G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.694G>C
ENST00000286298.5:c.462G>C MANE Select ENSP00000286298.4:p.Leu154Phe
ENST00000286298.4:c.462G>C ENSP00000286298.4:p.Leu154Phe
ENST00000503336.1:c.135G>C ENSP00000426053.1:p.Leu45Phe
NM_000112.3:c.462G>C , LRG_684t1:c.462G>C NP_000103.2:p.Leu154Phe
XM_017009191.2:c.462G>C XP_016864680.1:p.Leu154Phe
NM_000112.4:c.462G>C MANE Select NP_000103.2:p.Leu154Phe
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