Canonical Allele Identifier: CA361704794
Gene: SLC26A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977993C>T , CM000667.2:g.149977993C>T GRCh38
NC_000005.9:g.149357556C>T , CM000667.1:g.149357556C>T GRCh37
NC_000005.8:g.149337749C>T NCBI36
NG_007147.2:g.19111C>T , LRG_684:g.19111C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.573C>T
ENST00000286298.5:c.341C>T MANE Select ENSP00000286298.4:p.Ser114Leu
ENST00000286298.4:c.341C>T ENSP00000286298.4:p.Ser114Leu
ENST00000503336.1:c.14C>T ENSP00000426053.1:p.Ser5Leu
NM_000112.3:c.341C>T , LRG_684t1:c.341C>T NP_000103.2:p.Ser114Leu
XM_017009191.2:c.341C>T XP_016864680.1:p.Ser114Leu
NM_000112.4:c.341C>T MANE Select NP_000103.2:p.Ser114Leu