Canonical Allele Identifier: CA913108439
Gene: SLC26A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977897_149977903del , CM000667.2:g.149977897_149977903del GRCh38
NC_000005.9:g.149357460_149357466del , CM000667.1:g.149357460_149357466del GRCh37
NC_000005.8:g.149337653_149337659del NCBI36
NG_007147.2:g.19015_19021del , LRG_684:g.19015_19021del

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.477_483del
ENST00000286298.5:c.245_251del MANE Select ENSP00000286298.4:p.Pro82GlnfsTer5
ENST00000286298.4:c.245_251del ENSP00000286298.4:p.Pro82GlnfsTer5
NM_000112.3:c.245_251del , LRG_684t1:c.245_251del NP_000103.2:p.Pro82GlnfsTer5
XM_017009191.2:c.245_251del XP_016864680.1:p.Pro82GlnfsTer5
NM_000112.4:c.245_251del MANE Select NP_000103.2:p.Pro82GlnfsTer5