Canonical Allele Identifier: CA3505456
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs754184929
ExAC: 5:149360701 G / A
gnomAD v2: 5-149360701-G-A
MyVariant Identifiers: chr5:g.149360701G>A (hg19) chr5:g.149981138G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981138G>A , CM000667.2:g.149981138G>A GRCh38
NC_000005.9:g.149360701G>A , CM000667.1:g.149360701G>A GRCh37
NC_000005.8:g.149340894G>A NCBI36
NG_007147.2:g.22256G>A , LRG_684:g.22256G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.1545G>A MANE Select ENSP00000286298.4:p.Trp515Ter
ENST00000286298.4:c.1545G>A ENSP00000286298.4:p.Trp515Ter
ENST00000503336.1:c.372+2787G>A ENSP00000426053.1:n.372+2787G>A
NM_000112.3:c.1545G>A , LRG_684t1:c.1545G>A NP_000103.2:p.Trp515Ter
XM_017009191.2:c.1545G>A XP_016864680.1:p.Trp515Ter
NM_000112.4:c.1545G>A MANE Select NP_000103.2:p.Trp515Ter
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