Canonical Allele Identifier: CA361705205
Gene: SLC26A2 HGNC NCBI

Linked Data

gnomAD v4: 5-149978194-A-G
MyVariant Identifiers: chr5:g.149357757A>G (hg19) chr5:g.149978194A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978194A>G , CM000667.2:g.149978194A>G GRCh38
NC_000005.9:g.149357757A>G , CM000667.1:g.149357757A>G GRCh37
NC_000005.8:g.149337950A>G NCBI36
NG_007147.2:g.19312A>G , LRG_684:g.19312A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.774A>G
ENST00000286298.5:c.542A>G MANE Select ENSP00000286298.4:p.Gln181Arg
ENST00000286298.4:c.542A>G ENSP00000286298.4:p.Gln181Arg
ENST00000503336.1:c.215A>G ENSP00000426053.1:p.Gln72Arg
NM_000112.3:c.542A>G , LRG_684t1:c.542A>G NP_000103.2:p.Gln181Arg
XM_017009191.2:c.542A>G XP_016864680.1:p.Gln181Arg
NM_000112.4:c.542A>G MANE Select NP_000103.2:p.Gln181Arg
Search 100 bp 5'
Search 100 bp 3'