Canonical Allele Identifier: CA447402571
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1669907
ClinVar RCV Id: RCV002201086
dbSNP Id: rs1456276336
gnomAD v2: 5-149360551-G-A
gnomAD v4: 5-149980988-G-A
MyVariant Identifiers: chr5:g.149360551G>A (hg19) chr5:g.149980988G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980988G>A , CM000667.2:g.149980988G>A GRCh38
NC_000005.9:g.149360551G>A , CM000667.1:g.149360551G>A GRCh37
NC_000005.8:g.149340744G>A NCBI36
NG_007147.2:g.22106G>A , LRG_684:g.22106G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1395G>A MANE Select ENSP00000286298.4:p.Leu465=
ENST00000286298.4:c.1395G>A ENSP00000286298.4:p.Leu465=
ENST00000503336.1:c.372+2637G>A ENSP00000426053.1:n.372+2637G>A
NM_000112.3:c.1395G>A , LRG_684t1:c.1395G>A NP_000103.2:p.Leu465=
XM_017009191.2:c.1395G>A XP_016864680.1:p.Leu465=
NM_000112.4:c.1395G>A MANE Select NP_000103.2:p.Leu465=
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