Canonical Allele Identifier: CA447401883
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1554095137
MyVariant Identifiers: chr5:g.149357602T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978039T>C , CM000667.2:g.149978039T>C GRCh38
NC_000005.9:g.149357602T>C , CM000667.1:g.149357602T>C GRCh37
NC_000005.8:g.149337795T>C NCBI36
NG_007147.2:g.19157T>C , LRG_684:g.19157T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.619T>C
ENST00000286298.5:c.387T>C MANE Select ENSP00000286298.4:p.Tyr129=
ENST00000286298.4:c.387T>C ENSP00000286298.4:p.Tyr129=
ENST00000503336.1:c.60T>C ENSP00000426053.1:p.Tyr20=
NM_000112.3:c.387T>C , LRG_684t1:c.387T>C NP_000103.2:p.Tyr129=
XM_017009191.2:c.387T>C XP_016864680.1:p.Tyr129=
NM_000112.4:c.387T>C MANE Select NP_000103.2:p.Tyr129=
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