Canonical Allele Identifier: CA447402165
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149359981C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980418C>G , CM000667.2:g.149980418C>G GRCh38
NC_000005.9:g.149359981C>G , CM000667.1:g.149359981C>G GRCh37
NC_000005.8:g.149340174C>G NCBI36
NG_007147.2:g.21536C>G , LRG_684:g.21536C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.825C>G MANE Select ENSP00000286298.4:p.Leu275=
ENST00000286298.4:c.825C>G ENSP00000286298.4:p.Leu275=
ENST00000503336.1:c.372+2067C>G ENSP00000426053.1:n.372+2067C>G
NM_000112.3:c.825C>G , LRG_684t1:c.825C>G NP_000103.2:p.Leu275=
XM_017009191.2:c.825C>G XP_016864680.1:p.Leu275=
NM_000112.4:c.825C>G MANE Select NP_000103.2:p.Leu275=
Search 100 bp 5'
Search 100 bp 3'