Canonical Allele Identifier: CA10602769

Gene: SZT2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562955.2:c.4225C>T	ENSP00000457168.1:p.Arg1409Ter
ENST00000634258.3:c.4396C>T MANE Select	ENSP00000489255.1:p.Arg1466Ter
ENST00000478140.1:n.257C>T
ENST00000562955.1:c.4225C>T	ENSP00000457168.1:p.Arg1409Ter
ENST00000634258.1:c.4396C>T	ENSP00000489255.1:p.Arg1466Ter
NM_015284.3:c.4225C>T	NP_056099.3:p.Arg1409Ter
XM_005270686.2:c.4459C>T	XP_005270743.1:p.Arg1487Ter
XM_006710501.2:c.4396C>T	XP_006710564.1:p.Arg1466Ter
XM_011541103.1:c.4513C>T	XP_011539405.1:p.Arg1505Ter
XM_011541104.1:c.4342C>T	XP_011539406.1:p.Arg1448Ter
XM_011541105.1:c.4339C>T	XP_011539407.1:p.Arg1447Ter
XM_011541106.1:c.4339C>T	XP_011539408.1:p.Arg1447Ter
XM_011541107.1:c.3940C>T	XP_011539409.1:p.Arg1314Ter
NM_001365999.1:c.4396C>T MANE Select	NP_001352928.1:p.Arg1466Ter
XM_005270686.3:c.4459C>T	XP_005270743.1:p.Arg1487Ter
XM_011541106.3:c.4339C>T	XP_011539408.1:p.Arg1447Ter
XM_011541107.2:c.3940C>T	XP_011539409.1:p.Arg1314Ter
XM_017000819.1:c.4459C>T	XP_016856308.1:p.Arg1487Ter
XM_017000820.1:c.4288C>T	XP_016856309.1:p.Arg1430Ter
XM_017000821.1:c.3088C>T	XP_016856310.1:p.Arg1030Ter
XR_001737075.1:n.4542C>T
XR_001737076.1:n.4544C>T
XR_001737077.1:n.4544C>T
XR_002956151.1:n.4542C>T
NM_015284.4:c.4225C>T	NP_056099.3:p.Arg1409Ter