Canonical Allele Identifier: CA1590738758
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981393C= , CM000667.2:g.149981393C= GRCh38
NC_000005.9:g.149360956C= , CM000667.1:g.149360956C= GRCh37
NC_000005.8:g.149341149C= NCBI36
NG_007147.2:g.22511C= , LRG_684:g.22511C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1800C= MANE Select ENSP00000286298.4:p.Tyr600=
ENST00000286298.4:c.1800C= ENSP00000286298.4:p.Tyr600=
ENST00000503336.1:c.372+3042C= ENSP00000426053.1:n.372+3042C=
NM_000112.3:c.1800C= , LRG_684t1:c.1800C= NP_000103.2:p.Tyr600=
XM_017009191.2:c.1800C= XP_016864680.1:p.Tyr600=
NM_000112.4:c.1800C= MANE Select NP_000103.2:p.Tyr600=