Canonical Allele Identifier: CA809986
Gene: SZT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 429775
ClinVar RCV Id: RCV000493018 RCV000664408
dbSNP Id: rs765848129
ExAC: 1:43904696 C / T
gnomAD v2: 1-43904696-C-T
gnomAD v4: 1-43439025-C-T
MyVariant Identifiers: chr1:g.43904696C>T (hg19) chr1:g.43439025C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43439025C>T , CM000663.2:g.43439025C>T GRCh38
NC_000001.10:g.43904696C>T , CM000663.1:g.43904696C>T GRCh37
NC_000001.9:g.43677283C>T NCBI36
NG_029091.1:g.54141C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000562955.2:c.6553C>T ENSP00000457168.1:p.Arg2185Trp
ENST00000634258.3:c.6724C>T MANE Select ENSP00000489255.1:p.Arg2242Trp
ENST00000648058.1:n.3178C>T
ENST00000649403.1:n.1474C>T
ENST00000471177.1:n.387C>T
ENST00000562955.1:c.6553C>T ENSP00000457168.1:p.Arg2185Trp
ENST00000634258.1:c.6724C>T ENSP00000489255.1:p.Arg2242Trp
NM_015284.3:c.6553C>T NP_056099.3:p.Arg2185Trp
XM_005270686.2:c.6787C>T XP_005270743.1:p.Arg2263Trp
XM_006710501.2:c.6724C>T XP_006710564.1:p.Arg2242Trp
XM_011541103.1:c.6841C>T XP_011539405.1:p.Arg2281Trp
XM_011541104.1:c.6670C>T XP_011539406.1:p.Arg2224Trp
XM_011541105.1:c.6667C>T XP_011539407.1:p.Arg2223Trp
XM_011541106.1:c.6667C>T XP_011539408.1:p.Arg2223Trp
XM_011541107.1:c.6268C>T XP_011539409.1:p.Arg2090Trp
NM_001365999.1:c.6724C>T MANE Select NP_001352928.1:p.Arg2242Trp
XM_005270686.3:c.6787C>T XP_005270743.1:p.Arg2263Trp
XM_011541106.3:c.6667C>T XP_011539408.1:p.Arg2223Trp
XM_011541107.2:c.6268C>T XP_011539409.1:p.Arg2090Trp
XM_017000819.1:c.6634C>T XP_016856308.1:p.Arg2212Trp
XM_017000820.1:c.6616C>T XP_016856309.1:p.Arg2206Trp
XM_017000821.1:c.5416C>T XP_016856310.1:p.Arg1806Trp
XR_001737075.1:n.6870C>T
XR_002956151.1:n.6870C>T
NM_015284.4:c.6553C>T NP_056099.3:p.Arg2185Trp
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