Canonical Allele Identifier: CA3505266
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs370282677
ExAC: 5:149357728 G / A
gnomAD v2: 5-149357728-G-A
gnomAD v4: 5-149978165-G-A
MyVariant Identifiers: chr5:g.149357728G>A (hg19) chr5:g.149978165G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978165G>A , CM000667.2:g.149978165G>A GRCh38
NC_000005.9:g.149357728G>A , CM000667.1:g.149357728G>A GRCh37
NC_000005.8:g.149337921G>A NCBI36
NG_007147.2:g.19283G>A , LRG_684:g.19283G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.745G>A
ENST00000286298.5:c.513G>A MANE Select ENSP00000286298.4:p.Met171Ile
ENST00000286298.4:c.513G>A ENSP00000286298.4:p.Met171Ile
ENST00000503336.1:c.186G>A ENSP00000426053.1:p.Met62Ile
NM_000112.3:c.513G>A , LRG_684t1:c.513G>A NP_000103.2:p.Met171Ile
XM_017009191.2:c.513G>A XP_016864680.1:p.Met171Ile
NM_000112.4:c.513G>A MANE Select NP_000103.2:p.Met171Ile
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