Canonical Allele Identifier: CA339977746

Gene: HYI SZT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43451428A>T , CM000663.2:g.43451428A>T	GRCh38
NC_000001.10:g.43917099A>T , CM000663.1:g.43917099A>T	GRCh37
NC_000001.9:g.43689686A>T	NCBI36
NG_029091.1:g.66544A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001190880.3:c.742T>A (HYI) MANE Select	NP_001177809.1:p.Cys248Ser
NM_001365999.1:c.*948A>T (SZT2) MANE Select	NP_001352928.1:n.*948A>T
ENST00000372430.9:c.742T>A (HYI) MANE Select	ENSP00000361507.4:p.Cys248Ser
ENST00000634258.3:c.*948A>T (SZT2) MANE Select	ENSP00000489255.1:n.*948A>T
NM_001190880.2:c.742T>A (HYI)	NP_001177809.1:p.Cys248Ser
NM_001243526.1:c.817T>A (HYI)	NP_001230455.1:p.Ter273Arg
NM_001243526.2:c.817T>A (HYI)	NP_001230455.1:p.Ter273Arg
NM_001330526.1:c.817T>A (HYI)	NP_001317455.1:p.Cys273Ser
NM_001330526.2:c.817T>A (HYI)	NP_001317455.1:p.Cys273Ser
NM_015284.3:c.*948A>T (SZT2)	NP_056099.3:n.*948A>T
NM_015284.4:c.*948A>T (SZT2)	NP_056099.3:n.*948A>T
NM_031207.5:c.742T>A (HYI)	NP_112484.3:p.Ter248Arg
NM_031207.6:c.742T>A (HYI)	NP_112484.3:p.Ter248Arg
ENST00000372425.8:c.742T>A (HYI)	ENSP00000361502.4:p.Cys248Ser
ENST00000372427.5:n.2021T>A (HYI)
ENST00000372430.7:c.624T>A (HYI)
ENST00000372432.5:c.742T>A (HYI)	ENSP00000361509.1:p.Ter248Arg
ENST00000372433.5:c.638T>A (HYI)
ENST00000372434.5:c.817T>A (HYI)	ENSP00000361511.1:p.Cys273Ser
ENST00000460536.1:n.3064A>T (SZT2)
ENST00000470662.5:c.468T>A (HYI)
ENST00000483618.1:n.210T>A (HYI)
ENST00000486909.1:c.742T>A (HYI)	ENSP00000428399.1:p.Cys248Ser
ENST00000487366.5:c.483T>A (HYI)
ENST00000562955.1:c.11076A>T (SZT2)	ENSP00000457168.1:n.11076A>T
ENST00000562955.2:c.*948A>T (SZT2)	ENSP00000457168.1:n.*948A>T
ENST00000583037.5:c.817T>A (HYI)	ENSP00000461969.2:p.Ter273Arg
XM_005271239.3:c.817T>A (HYI)	XP_005271296.1:p.Cys273Ser
XM_005271240.3:c.715T>A (HYI)	XP_005271297.1:p.Cys239Ser
XM_005271240.5:c.715T>A (HYI)	XP_005271297.1:p.Cys239Ser
XM_006710937.2:c.817T>A (HYI)	XP_006711000.1:p.Ser273Thr
XM_006710937.3:c.817T>A (HYI)	XP_006711000.1:p.Ser273Thr
XM_011542222.1:c.715T>A (HYI)	XP_011540524.1:p.Ter239Arg
XM_011542222.3:c.715T>A (HYI)	XP_011540524.1:p.Ter239Arg