Canonical Allele Identifier: CA2675943644
Gene: SLC26A2 HGNC NCBI

Linked Data

gnomAD v4: 5-149980678-G-GACAT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980680_149980683dup , CM000667.2:g.149980680_149980683dup GRCh38
NC_000005.9:g.149360243_149360246dup , CM000667.1:g.149360243_149360246dup GRCh37
NC_000005.8:g.149340436_149340439dup NCBI36
NG_007147.2:g.21798_21801dup , LRG_684:g.21798_21801dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1087_1090dup MANE Select ENSP00000286298.4:p.Ile364ThrfsTer19
ENST00000286298.4:c.1087_1090dup ENSP00000286298.4:p.Ile364ThrfsTer19
ENST00000503336.1:c.372+2329_372+2332dup ENSP00000426053.1:n.372+2329_372+2332dup
NM_000112.3:c.1087_1090dup , LRG_684t1:c.1087_1090dup NP_000103.2:p.Ile364ThrfsTer19
XM_017009191.2:c.1087_1090dup XP_016864680.1:p.Ile364ThrfsTer19
NM_000112.4:c.1087_1090dup MANE Select NP_000103.2:p.Ile364ThrfsTer19
Search 100 bp 5'
Search 100 bp 3'