Canonical Allele Identifier: CA361709695
Gene: SLC26A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981640C>G , CM000667.2:g.149981640C>G GRCh38
NC_000005.9:g.149361203C>G , CM000667.1:g.149361203C>G GRCh37
NC_000005.8:g.149341396C>G NCBI36
NG_007147.2:g.22758C>G , LRG_684:g.22758C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.2047C>G MANE Select ENSP00000286298.4:p.Leu683Val
ENST00000286298.4:c.2047C>G ENSP00000286298.4:p.Leu683Val
ENST00000503336.1:c.372+3289C>G ENSP00000426053.1:n.372+3289C>G
NM_000112.3:c.2047C>G , LRG_684t1:c.2047C>G NP_000103.2:p.Leu683Val
XM_017009191.2:c.2047C>G XP_016864680.1:p.Leu683Val
NM_000112.4:c.2047C>G MANE Select NP_000103.2:p.Leu683Val