Canonical Allele Identifier: CA340011033

Gene: SZT2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562955.2:c.2092C>G	ENSP00000457168.1:p.Gln698Glu
ENST00000634258.3:c.2092C>G MANE Select	ENSP00000489255.1:p.Gln698Glu
ENST00000470139.1:n.823C>G
ENST00000562955.1:c.2092C>G	ENSP00000457168.1:p.Gln698Glu
ENST00000634258.1:c.2092C>G	ENSP00000489255.1:p.Gln698Glu
NM_015284.3:c.2092C>G	NP_056099.3:p.Gln698Glu
XM_005270686.2:c.2155C>G	XP_005270743.1:p.Gln719Glu
XM_006710501.2:c.2092C>G	XP_006710564.1:p.Gln698Glu
XM_011541103.1:c.2209C>G	XP_011539405.1:p.Gln737Glu
XM_011541104.1:c.2038C>G	XP_011539406.1:p.Gln680Glu
XM_011541105.1:c.2035C>G	XP_011539407.1:p.Gln679Glu
XM_011541106.1:c.2035C>G	XP_011539408.1:p.Gln679Glu
XM_011541107.1:c.1636C>G	XP_011539409.1:p.Gln546Glu
NM_001365999.1:c.2092C>G MANE Select	NP_001352928.1:p.Gln698Glu
XM_005270686.3:c.2155C>G	XP_005270743.1:p.Gln719Glu
XM_011541106.3:c.2035C>G	XP_011539408.1:p.Gln679Glu
XM_011541107.2:c.1636C>G	XP_011539409.1:p.Gln546Glu
XM_017000819.1:c.2155C>G	XP_016856308.1:p.Gln719Glu
XM_017000820.1:c.1984C>G	XP_016856309.1:p.Gln662Glu
XM_017000821.1:c.784C>G	XP_016856310.1:p.Gln262Glu
XR_001737075.1:n.2238C>G
XR_001737076.1:n.2240C>G
XR_001737077.1:n.2240C>G
XR_002956151.1:n.2238C>G
NM_015284.4:c.2092C>G	NP_056099.3:p.Gln698Glu