Canonical Allele Identifier: CA447401849
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149357494T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977931T>A , CM000667.2:g.149977931T>A GRCh38
NC_000005.9:g.149357494T>A , CM000667.1:g.149357494T>A GRCh37
NC_000005.8:g.149337687T>A NCBI36
NG_007147.2:g.19049T>A , LRG_684:g.19049T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.511T>A
ENST00000286298.5:c.279T>A MANE Select ENSP00000286298.4:p.Leu93=
ENST00000286298.4:c.279T>A ENSP00000286298.4:p.Leu93=
NM_000112.3:c.279T>A , LRG_684t1:c.279T>A NP_000103.2:p.Leu93=
XM_017009191.2:c.279T>A XP_016864680.1:p.Leu93=
NM_000112.4:c.279T>A MANE Select NP_000103.2:p.Leu93=