Canonical Allele Identifier: CA2573139275
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1456961
ClinVar RCV Id: RCV001947014
dbSNP Id: rs2113698201
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980657_149980658insAAAAA , CM000667.2:g.149980657_149980658insAAAAA GRCh38
NC_000005.9:g.149360220_149360221insAAAAA , CM000667.1:g.149360220_149360221insAAAAA GRCh37
NC_000005.8:g.149340413_149340414insAAAAA NCBI36
NG_007147.2:g.21775_21776insAAAAA , LRG_684:g.21775_21776insAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1064_1065insAAAAA MANE Select ENSP00000286298.4:p.Asn355LysfsTer26
ENST00000286298.4:c.1064_1065insAAAAA ENSP00000286298.4:p.Asn355LysfsTer26
ENST00000503336.1:c.372+2306_372+2307insAAAAA ENSP00000426053.1:n.372+2306_372+2307insAAAAA
NM_000112.3:c.1064_1065insAAAAA , LRG_684t1:c.1064_1065insAAAAA NP_000103.2:p.Asn355LysfsTer26
XM_017009191.2:c.1064_1065insAAAAA XP_016864680.1:p.Asn355LysfsTer26
NM_000112.4:c.1064_1065insAAAAA MANE Select NP_000103.2:p.Asn355LysfsTer26
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