Canonical Allele Identifier: CA447149551
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149361307T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981744T>A , CM000667.2:g.149981744T>A GRCh38
NC_000005.9:g.149361307T>A , CM000667.1:g.149361307T>A GRCh37
NC_000005.8:g.149341500T>A NCBI36
NG_007147.2:g.22862T>A , LRG_684:g.22862T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.2151T>A MANE Select ENSP00000286298.4:p.Ala717=
ENST00000286298.4:c.2151T>A ENSP00000286298.4:p.Ala717=
ENST00000503336.1:c.372+3393T>A ENSP00000426053.1:n.372+3393T>A
NM_000112.3:c.2151T>A , LRG_684t1:c.2151T>A NP_000103.2:p.Ala717=
XM_017009191.2:c.2151T>A XP_016864680.1:p.Ala717=
NM_000112.4:c.2151T>A MANE Select NP_000103.2:p.Ala717=