Canonical Allele Identifier: CA2740094152
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2924534
ClinVar RCV Id: RCV003788236
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981681_149981682delinsGT , CM000667.2:g.149981681_149981682delinsGT GRCh38
NC_000005.9:g.149361244_149361245delinsGT , CM000667.1:g.149361244_149361245delinsGT GRCh37
NC_000005.8:g.149341437_149341438delinsGT NCBI36
NG_007147.2:g.22799_22800delinsGT , LRG_684:g.22799_22800delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.2088_2089delinsGT MANE Select ENSP00000286298.4:p.Asn696LysfsTer2
ENST00000286298.4:c.2088_2089delinsGT ENSP00000286298.4:p.Asn696LysfsTer2
ENST00000503336.1:c.372+3330_372+3331delinsGT ENSP00000426053.1:n.372+3330_372+3331delinsGT
NM_000112.3:c.2088_2089delinsGT , LRG_684t1:c.2088_2089delinsGT NP_000103.2:p.Asn696LysfsTer2
XM_017009191.2:c.2088_2089delinsGT XP_016864680.1:p.Asn696LysfsTer2
NM_000112.4:c.2088_2089delinsGT MANE Select NP_000103.2:p.Asn696LysfsTer2
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