Canonical Allele Identifier: CA1590738754
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981388T= , CM000667.2:g.149981388T= GRCh38
NC_000005.9:g.149360951T= , CM000667.1:g.149360951T= GRCh37
NC_000005.8:g.149341144T= NCBI36
NG_007147.2:g.22506T= , LRG_684:g.22506T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1795T= MANE Select ENSP00000286298.4:p.Leu599=
ENST00000286298.4:c.1795T= ENSP00000286298.4:p.Leu599=
ENST00000503336.1:c.372+3037T= ENSP00000426053.1:n.372+3037T=
NM_000112.3:c.1795T= , LRG_684t1:c.1795T= NP_000103.2:p.Leu599=
XM_017009191.2:c.1795T= XP_016864680.1:p.Leu599=
NM_000112.4:c.1795T= MANE Select NP_000103.2:p.Leu599=