Canonical Allele Identifier: CA809363

Gene: SZT2

Linked Data

• ClinVar Variation Id: 436931
• ClinVar RCV Id: RCV000500168 ; RCV001255057 ; RCV000864618 ; RCV002341188
• dbSNP Id: rs143935839
• ExAC: 1:43896413 G / A
• gnomAD v2: 1-43896413-G-A
• gnomAD v3: 1-43430742-G-A
• gnomAD v4: 1-43430742-G-A
• MyVariant Identifiers: chr1:g.43896413G>A (hg19) ; chr1:g.43430742G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43430742G>A , CM000663.2:g.43430742G>A	GRCh38
NC_000001.10:g.43896413G>A , CM000663.1:g.43896413G>A	GRCh37
NC_000001.9:g.43669000G>A	NCBI36
NG_029091.1:g.45858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562955.2:c.4556G>A	ENSP00000457168.1:p.Arg1519His
ENST00000634258.3:c.4727G>A MANE Select	ENSP00000489255.1:p.Arg1576His
ENST00000562955.1:c.4556G>A	ENSP00000457168.1:p.Arg1519His
ENST00000634258.1:c.4727G>A	ENSP00000489255.1:p.Arg1576His
NM_015284.3:c.4556G>A	NP_056099.3:p.Arg1519His
XM_005270686.2:c.4790G>A	XP_005270743.1:p.Arg1597His
XM_006710501.2:c.4727G>A	XP_006710564.1:p.Arg1576His
XM_011541103.1:c.4844G>A	XP_011539405.1:p.Arg1615His
XM_011541104.1:c.4673G>A	XP_011539406.1:p.Arg1558His
XM_011541105.1:c.4670G>A	XP_011539407.1:p.Arg1557His
XM_011541106.1:c.4670G>A	XP_011539408.1:p.Arg1557His
XM_011541107.1:c.4271G>A	XP_011539409.1:p.Arg1424His
NM_001365999.1:c.4727G>A MANE Select	NP_001352928.1:p.Arg1576His
XM_005270686.3:c.4790G>A	XP_005270743.1:p.Arg1597His
XM_011541106.3:c.4670G>A	XP_011539408.1:p.Arg1557His
XM_011541107.2:c.4271G>A	XP_011539409.1:p.Arg1424His
XM_017000819.1:c.4790G>A	XP_016856308.1:p.Arg1597His
XM_017000820.1:c.4619G>A	XP_016856309.1:p.Arg1540His
XM_017000821.1:c.3419G>A	XP_016856310.1:p.Arg1140His
XR_001737075.1:n.4873G>A
XR_001737076.1:n.4875G>A
XR_001737077.1:n.4875G>A
XR_002956151.1:n.4873G>A
NM_015284.4:c.4556G>A	NP_056099.3:p.Arg1519His