Canonical Allele Identifier: CA1590738751
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981377T= , CM000667.2:g.149981377T= GRCh38
NC_000005.9:g.149360940T= , CM000667.1:g.149360940T= GRCh37
NC_000005.8:g.149341133T= NCBI36
NG_007147.2:g.22495T= , LRG_684:g.22495T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1784T= MANE Select ENSP00000286298.4:p.Phe595=
ENST00000286298.4:c.1784T= ENSP00000286298.4:p.Phe595=
ENST00000503336.1:c.372+3026T= ENSP00000426053.1:n.372+3026T=
NM_000112.3:c.1784T= , LRG_684t1:c.1784T= NP_000103.2:p.Phe595=
XM_017009191.2:c.1784T= XP_016864680.1:p.Phe595=
NM_000112.4:c.1784T= MANE Select NP_000103.2:p.Phe595=