Canonical Allele Identifier: CA3505245
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1537444
ClinVar RCV Id: RCV002166964
dbSNP Id: rs536620072
ExAC: 5:149357638 G / A
gnomAD v2: 5-149357638-G-A
gnomAD v3: 5-149978075-G-A
gnomAD v4: 5-149978075-G-A
MyVariant Identifiers: chr5:g.149357638G>A (hg19) chr5:g.149978075G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978075G>A , CM000667.2:g.149978075G>A GRCh38
NC_000005.9:g.149357638G>A , CM000667.1:g.149357638G>A GRCh37
NC_000005.8:g.149337831G>A NCBI36
NG_007147.2:g.19193G>A , LRG_684:g.19193G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.655G>A
ENST00000286298.5:c.423G>A MANE Select ENSP00000286298.4:p.Leu141=
ENST00000286298.4:c.423G>A ENSP00000286298.4:p.Leu141=
ENST00000503336.1:c.96G>A ENSP00000426053.1:p.Leu32=
NM_000112.3:c.423G>A , LRG_684t1:c.423G>A NP_000103.2:p.Leu141=
XM_017009191.2:c.423G>A XP_016864680.1:p.Leu141=
NM_000112.4:c.423G>A MANE Select NP_000103.2:p.Leu141=
Search 100 bp 5'
Search 100 bp 3'