Canonical Allele Identifier: CA447402074
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149359903A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980340A>G , CM000667.2:g.149980340A>G GRCh38
NC_000005.9:g.149359903A>G , CM000667.1:g.149359903A>G GRCh37
NC_000005.8:g.149340096A>G NCBI36
NG_007147.2:g.21458A>G , LRG_684:g.21458A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.747A>G MANE Select ENSP00000286298.4:p.Ser249=
ENST00000286298.4:c.747A>G ENSP00000286298.4:p.Ser249=
ENST00000503336.1:c.372+1989A>G ENSP00000426053.1:n.372+1989A>G
NM_000112.3:c.747A>G , LRG_684t1:c.747A>G NP_000103.2:p.Ser249=
XM_017009191.2:c.747A>G XP_016864680.1:p.Ser249=
NM_000112.4:c.747A>G MANE Select NP_000103.2:p.Ser249=