Canonical Allele Identifier: CA361705305
Gene: SLC26A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978240G>C , CM000667.2:g.149978240G>C GRCh38
NC_000005.9:g.149357803G>C , CM000667.1:g.149357803G>C GRCh37
NC_000005.8:g.149337996G>C NCBI36
NG_007147.2:g.19358G>C , LRG_684:g.19358G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.820G>C
ENST00000286298.5:c.588G>C MANE Select ENSP00000286298.4:p.Met196Ile
ENST00000286298.4:c.588G>C ENSP00000286298.4:p.Met196Ile
ENST00000503336.1:c.261G>C ENSP00000426053.1:p.Met87Ile
NM_000112.3:c.588G>C , LRG_684t1:c.588G>C NP_000103.2:p.Met196Ile
XM_017009191.2:c.588G>C XP_016864680.1:p.Met196Ile
NM_000112.4:c.588G>C MANE Select NP_000103.2:p.Met196Ile