Canonical Allele Identifier: CA144914
Gene: SZT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 66996
ClinVar RCV Id: RCV000057518
dbSNP Id: rs397515489
gnomAD v4: 1-43403222-C-T
MyVariant Identifiers: chr1:g.43868893C>T (hg19) chr1:g.43403222C>T (hg38)
PubMed: PMID:23932106
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43403222C>T , CM000663.2:g.43403222C>T GRCh38
NC_000001.10:g.43868893C>T , CM000663.1:g.43868893C>T GRCh37
NC_000001.9:g.43641480C>T NCBI36
NG_029091.1:g.18338C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357658.4:n.91C>T
ENST00000406439.7:c.73C>T ENSP00000386070.2:p.Arg25Ter
ENST00000562955.2:c.73C>T ENSP00000457168.1:p.Arg25Ter
ENST00000634258.3:c.73C>T MANE Select ENSP00000489255.1:p.Arg25Ter
ENST00000638631.1:n.143C>T
ENST00000357658.3:n.137C>T
ENST00000372450.8:c.73C>T ENSP00000361528.4:p.Arg25Ter
ENST00000406439.6:c.73C>T ENSP00000386070.2:p.Arg25Ter
ENST00000562955.1:c.73C>T ENSP00000457168.1:p.Arg25Ter
ENST00000634258.1:c.73C>T ENSP00000489255.1:p.Arg25Ter
NM_015284.3:c.73C>T NP_056099.3:p.Arg25Ter
XM_005270686.2:c.136C>T XP_005270743.1:p.Arg46Ter
XM_006710501.2:c.73C>T XP_006710564.1:p.Arg25Ter
XM_011541103.1:c.190C>T XP_011539405.1:p.Arg64Ter
XM_011541104.1:c.190C>T XP_011539406.1:p.Arg64Ter
XM_011541105.1:c.16C>T XP_011539407.1:p.Arg6Ter
XM_011541106.1:c.16C>T XP_011539408.1:p.Arg6Ter
NM_001365999.1:c.73C>T MANE Select NP_001352928.1:p.Arg25Ter
XM_005270686.3:c.136C>T XP_005270743.1:p.Arg46Ter
XM_011541106.3:c.16C>T XP_011539408.1:p.Arg6Ter
XM_017000819.1:c.136C>T XP_016856308.1:p.Arg46Ter
XM_017000820.1:c.136C>T XP_016856309.1:p.Arg46Ter
XR_001737075.1:n.219C>T
XR_001737076.1:n.221C>T
XR_001737077.1:n.221C>T
XR_002956151.1:n.219C>T
NM_015284.4:c.73C>T NP_056099.3:p.Arg25Ter
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