Canonical Allele Identifier: CA805532574
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1454370666
MyVariant Identifiers: chr5:g.149361275_149361279del (hg19) chr5:g.149981712_149981716del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981717_149981721del , CM000667.2:g.149981717_149981721del GRCh38
NC_000005.9:g.149361280_149361284del , CM000667.1:g.149361280_149361284del GRCh37
NC_000005.8:g.149341473_149341477del NCBI36
NG_007147.2:g.22835_22839del , LRG_684:g.22835_22839del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.2124_2128del MANE Select ENSP00000286298.4:p.Phe709Ter
ENST00000286298.4:c.2124_2128del ENSP00000286298.4:p.Phe709Ter
ENST00000503336.1:c.372+3366_372+3370del ENSP00000426053.1:n.372+3366_372+3370del
NM_000112.3:c.2124_2128del , LRG_684t1:c.2124_2128del NP_000103.2:p.Phe709Ter
XM_017009191.2:c.2124_2128del XP_016864680.1:p.Phe709Ter
NM_000112.4:c.2124_2128del MANE Select NP_000103.2:p.Phe709Ter
Search 100 bp 5'
Search 100 bp 3'