Canonical Allele Identifier: CA361703962
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1755017472
MyVariant Identifiers: chr5:g.149357313G>A (hg19) chr5:g.149977750G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977750G>A , CM000667.2:g.149977750G>A GRCh38
NC_000005.9:g.149357313G>A , CM000667.1:g.149357313G>A GRCh37
NC_000005.8:g.149337506G>A NCBI36
NG_007147.2:g.18868G>A , LRG_684:g.18868G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.330G>A
ENST00000286298.5:c.98G>A MANE Select ENSP00000286298.4:p.Arg33Lys
ENST00000286298.4:c.98G>A ENSP00000286298.4:p.Arg33Lys
NM_000112.3:c.98G>A , LRG_684t1:c.98G>A NP_000103.2:p.Arg33Lys
XM_017009191.2:c.98G>A XP_016864680.1:p.Arg33Lys
NM_000112.4:c.98G>A MANE Select NP_000103.2:p.Arg33Lys
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