Canonical Allele Identifier: CA3505575
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs748275663
ExAC: 5:149361385 G / A
gnomAD v2: 5-149361385-G-A
gnomAD v4: 5-149981822-G-A
MyVariant Identifiers: chr5:g.149361385G>A (hg19) chr5:g.149361385_149361389delinsATAGA (hg19) chr5:g.149981822G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981822G>A , CM000667.2:g.149981822G>A GRCh38
NC_000005.9:g.149361385G>A , CM000667.1:g.149361385G>A GRCh37
NC_000005.8:g.149341578G>A NCBI36
NG_007147.2:g.22940G>A , LRG_684:g.22940G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*9G>A MANE Select ENSP00000286298.4:n.*9G>A
ENST00000286298.4:c.*9G>A ENSP00000286298.4:n.*9G>A
ENST00000503336.1:c.372+3471G>A ENSP00000426053.1:n.372+3471G>A
NM_000112.3:c.*9G>A , LRG_684t1:c.*9G>A NP_000103.2:n.*9G>A
XM_017009191.2:c.*9G>A XP_016864680.1:n.*9G>A
NM_000112.4:c.*9G>A MANE Select NP_000103.2:n.*9G>A
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