Canonical Allele Identifier: CA144916
Gene: SZT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 66997
ClinVar RCV Id: RCV000057519
dbSNP Id: rs397515490
MyVariant Identifiers: chr1:g.43888824C>T (hg19) chr1:g.43423153C>T (hg38)
PubMed: PMID:23932106
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43423153C>T , CM000663.2:g.43423153C>T GRCh38
NC_000001.10:g.43888824C>T , CM000663.1:g.43888824C>T GRCh37
NC_000001.9:g.43661411C>T NCBI36
NG_029091.1:g.38269C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000562955.2:c.2092C>T ENSP00000457168.1:p.Gln698Ter
ENST00000634258.3:c.2092C>T MANE Select ENSP00000489255.1:p.Gln698Ter
ENST00000470139.1:n.823C>T
ENST00000562955.1:c.2092C>T ENSP00000457168.1:p.Gln698Ter
ENST00000634258.1:c.2092C>T ENSP00000489255.1:p.Gln698Ter
NM_015284.3:c.2092C>T NP_056099.3:p.Gln698Ter
XM_005270686.2:c.2155C>T XP_005270743.1:p.Gln719Ter
XM_006710501.2:c.2092C>T XP_006710564.1:p.Gln698Ter
XM_011541103.1:c.2209C>T XP_011539405.1:p.Gln737Ter
XM_011541104.1:c.2038C>T XP_011539406.1:p.Gln680Ter
XM_011541105.1:c.2035C>T XP_011539407.1:p.Gln679Ter
XM_011541106.1:c.2035C>T XP_011539408.1:p.Gln679Ter
XM_011541107.1:c.1636C>T XP_011539409.1:p.Gln546Ter
NM_001365999.1:c.2092C>T MANE Select NP_001352928.1:p.Gln698Ter
XM_005270686.3:c.2155C>T XP_005270743.1:p.Gln719Ter
XM_011541106.3:c.2035C>T XP_011539408.1:p.Gln679Ter
XM_011541107.2:c.1636C>T XP_011539409.1:p.Gln546Ter
XM_017000819.1:c.2155C>T XP_016856308.1:p.Gln719Ter
XM_017000820.1:c.1984C>T XP_016856309.1:p.Gln662Ter
XM_017000821.1:c.784C>T XP_016856310.1:p.Gln262Ter
XR_001737075.1:n.2238C>T
XR_001737076.1:n.2240C>T
XR_001737077.1:n.2240C>T
XR_002956151.1:n.2238C>T
NM_015284.4:c.2092C>T NP_056099.3:p.Gln698Ter
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