Canonical Allele Identifier: CA1590738792
Gene: SLC26A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981470_149981471delinsTG , CM000667.2:g.149981470_149981471delinsTG GRCh38
NC_000005.9:g.149361033_149361034delinsTG , CM000667.1:g.149361033_149361034delinsTG GRCh37
NC_000005.8:g.149341226_149341227delinsTG NCBI36
NG_007147.2:g.22588_22589delinsTG , LRG_684:g.22588_22589delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1877_1878delinsTG MANE Select ENSP00000286298.4:p.Val626=
ENST00000286298.4:c.1877_1878delinsTG ENSP00000286298.4:p.Val626=
ENST00000503336.1:c.372+3119_372+3120delinsTG ENSP00000426053.1:n.372+3119_372+3120delinsTG
NM_000112.3:c.1877_1878delinsTG , LRG_684t1:c.1877_1878delinsTG NP_000103.2:p.Val626=
XM_017009191.2:c.1877_1878delinsTG XP_016864680.1:p.Val626=
NM_000112.4:c.1877_1878delinsTG MANE Select NP_000103.2:p.Val626=
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