Canonical Allele Identifier: CA361709796
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 555059
ClinVar RCV Id: RCV000670801 RCV003767990
dbSNP Id: rs761932822
COSMIC: COSM5737379
MyVariant Identifiers: chr5:g.149361253T>A (hg19) chr5:g.149981690T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981690T>A , CM000667.2:g.149981690T>A GRCh38
NC_000005.9:g.149361253T>A , CM000667.1:g.149361253T>A GRCh37
NC_000005.8:g.149341446T>A NCBI36
NG_007147.2:g.22808T>A , LRG_684:g.22808T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.2097T>A MANE Select ENSP00000286298.4:p.Tyr699Ter
ENST00000286298.4:c.2097T>A ENSP00000286298.4:p.Tyr699Ter
ENST00000503336.1:c.372+3339T>A ENSP00000426053.1:n.372+3339T>A
NM_000112.3:c.2097T>A , LRG_684t1:c.2097T>A NP_000103.2:p.Tyr699Ter
XM_017009191.2:c.2097T>A XP_016864680.1:p.Tyr699Ter
NM_000112.4:c.2097T>A MANE Select NP_000103.2:p.Tyr699Ter
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