Canonical Allele Identifier: CA3505278
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs769046123
ExAC: 5:149357786 GCTC / G
gnomAD v2: 5-149357786-GCTC-G
gnomAD v3: 5-149978223-GCTC-G
gnomAD v4: 5-149978223-GCTC-G
MyVariant Identifiers: chr5:g.149357787_149357789del (hg19) chr5:g.149978224_149978226del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978226_149978228del , CM000667.2:g.149978226_149978228del GRCh38
NC_000005.9:g.149357789_149357791del , CM000667.1:g.149357789_149357791del GRCh37
NC_000005.8:g.149337982_149337984del NCBI36
NG_007147.2:g.19344_19346del , LRG_684:g.19344_19346del

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.806_808del
ENST00000286298.5:c.574_576del MANE Select ENSP00000286298.4:p.Pro192del
ENST00000286298.4:c.574_576del ENSP00000286298.4:p.Pro192del
ENST00000503336.1:c.247_249del ENSP00000426053.1:p.Pro83del
NM_000112.3:c.574_576del , LRG_684t1:c.574_576del NP_000103.2:p.Pro192del
XM_017009191.2:c.574_576del XP_016864680.1:p.Pro192del
NM_000112.4:c.574_576del MANE Select NP_000103.2:p.Pro192del
Search 100 bp 5'
Search 100 bp 3'