Canonical Allele Identifier: CA361707677
Gene: SLC26A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980935T>G , CM000667.2:g.149980935T>G GRCh38
NC_000005.9:g.149360498T>G , CM000667.1:g.149360498T>G GRCh37
NC_000005.8:g.149340691T>G NCBI36
NG_007147.2:g.22053T>G , LRG_684:g.22053T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1342T>G MANE Select ENSP00000286298.4:p.Ser448Ala
ENST00000286298.4:c.1342T>G ENSP00000286298.4:p.Ser448Ala
ENST00000503336.1:c.372+2584T>G ENSP00000426053.1:n.372+2584T>G
NM_000112.3:c.1342T>G , LRG_684t1:c.1342T>G NP_000103.2:p.Ser448Ala
XM_017009191.2:c.1342T>G XP_016864680.1:p.Ser448Ala
NM_000112.4:c.1342T>G MANE Select NP_000103.2:p.Ser448Ala