Canonical Allele Identifier: CA809267
Gene: SZT2 HGNC NCBI
gnomAD v4:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43430098C>A , CM000663.2:g.43430098C>A GRCh38
NC_000001.10:g.43895769C>A , CM000663.1:g.43895769C>A GRCh37
NC_000001.9:g.43668356C>A NCBI36
NG_029091.1:g.45214C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000562955.2:c.4225C>A ENSP00000457168.1:p.Arg1409=
ENST00000634258.3:c.4396C>A MANE Select ENSP00000489255.1:p.Arg1466=
ENST00000478140.1:n.257C>A
ENST00000562955.1:c.4225C>A ENSP00000457168.1:p.Arg1409=
ENST00000634258.1:c.4396C>A ENSP00000489255.1:p.Arg1466=
NM_015284.3:c.4225C>A NP_056099.3:p.Arg1409=
XM_005270686.2:c.4459C>A XP_005270743.1:p.Arg1487=
XM_006710501.2:c.4396C>A XP_006710564.1:p.Arg1466=
XM_011541103.1:c.4513C>A XP_011539405.1:p.Arg1505=
XM_011541104.1:c.4342C>A XP_011539406.1:p.Arg1448=
XM_011541105.1:c.4339C>A XP_011539407.1:p.Arg1447=
XM_011541106.1:c.4339C>A XP_011539408.1:p.Arg1447=
XM_011541107.1:c.3940C>A XP_011539409.1:p.Arg1314=
NM_001365999.1:c.4396C>A MANE Select NP_001352928.1:p.Arg1466=
XM_005270686.3:c.4459C>A XP_005270743.1:p.Arg1487=
XM_011541106.3:c.4339C>A XP_011539408.1:p.Arg1447=
XM_011541107.2:c.3940C>A XP_011539409.1:p.Arg1314=
XM_017000819.1:c.4459C>A XP_016856308.1:p.Arg1487=
XM_017000820.1:c.4288C>A XP_016856309.1:p.Arg1430=
XM_017000821.1:c.3088C>A XP_016856310.1:p.Arg1030=
XR_001737075.1:n.4542C>A
XR_001737076.1:n.4544C>A
XR_001737077.1:n.4544C>A
XR_002956151.1:n.4542C>A
NM_015284.4:c.4225C>A NP_056099.3:p.Arg1409=