Canonical Allele Identifier: CA447401942
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2419599
ClinVar RCV Id: RCV003115484
dbSNP Id: rs1561819533
gnomAD v4: 5-149978063-T-G
MyVariant Identifiers: chr5:g.149357626T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978063T>G , CM000667.2:g.149978063T>G GRCh38
NC_000005.9:g.149357626T>G , CM000667.1:g.149357626T>G GRCh37
NC_000005.8:g.149337819T>G NCBI36
NG_007147.2:g.19181T>G , LRG_684:g.19181T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.643T>G
ENST00000286298.5:c.411T>G MANE Select ENSP00000286298.4:p.Pro137=
ENST00000286298.4:c.411T>G ENSP00000286298.4:p.Pro137=
ENST00000503336.1:c.84T>G ENSP00000426053.1:p.Pro28=
NM_000112.3:c.411T>G , LRG_684t1:c.411T>G NP_000103.2:p.Pro137=
XM_017009191.2:c.411T>G XP_016864680.1:p.Pro137=
NM_000112.4:c.411T>G MANE Select NP_000103.2:p.Pro137=
Search 100 bp 5'
Search 100 bp 3'