Canonical Allele Identifier: CA811294

Gene: HYI SZT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43451427C>G , CM000663.2:g.43451427C>G	GRCh38
NC_000001.10:g.43917098C>G , CM000663.1:g.43917098C>G	GRCh37
NC_000001.9:g.43689685C>G	NCBI36
NG_029091.1:g.66543C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001190880.3:c.743G>C (HYI) MANE Select	NP_001177809.1:p.Cys248Ser
NM_001365999.1:c.*947C>G (SZT2) MANE Select	NP_001352928.1:n.*947C>G
ENST00000372430.9:c.743G>C (HYI) MANE Select	ENSP00000361507.4:p.Cys248Ser
ENST00000634258.3:c.*947C>G (SZT2) MANE Select	ENSP00000489255.1:n.*947C>G
NM_001190880.2:c.743G>C (HYI)	NP_001177809.1:p.Cys248Ser
NM_001243526.1:c.817+1G>C (HYI)	NP_001230455.1:n.817+1G>C
NM_001243526.2:c.817+1G>C (HYI)	NP_001230455.1:n.817+1G>C
NM_001330526.1:c.818G>C (HYI)	NP_001317455.1:p.Cys273Ser
NM_001330526.2:c.818G>C (HYI)	NP_001317455.1:p.Cys273Ser
NM_015284.3:c.*947C>G (SZT2)	NP_056099.3:n.*947C>G
NM_015284.4:c.*947C>G (SZT2)	NP_056099.3:n.*947C>G
NM_031207.5:c.742+1G>C (HYI)	NP_112484.3:n.742+1G>C
NM_031207.6:c.742+1G>C (HYI)	NP_112484.3:n.742+1G>C
ENST00000372425.8:c.743G>C (HYI)	ENSP00000361502.4:p.Cys248Ser
ENST00000372427.5:n.2021+1G>C (HYI)
ENST00000372430.7:c.625G>C (HYI)
ENST00000372432.5:c.742+1G>C (HYI)	ENSP00000361509.1:n.742+1G>C
ENST00000372433.5:c.638+1G>C (HYI)
ENST00000372434.5:c.818G>C (HYI)	ENSP00000361511.1:p.Cys273Ser
ENST00000460536.1:n.3063C>G (SZT2)
ENST00000470662.5:c.469G>C (HYI)
ENST00000483618.1:n.211G>C (HYI)
ENST00000486909.1:c.743G>C (HYI)	ENSP00000428399.1:p.Cys248Ser
ENST00000487366.5:c.483+1G>C (HYI)
ENST00000562955.1:c.11075C>G (SZT2)	ENSP00000457168.1:n.11075C>G
ENST00000562955.2:c.*947C>G (SZT2)	ENSP00000457168.1:n.*947C>G
ENST00000583037.5:c.817+1G>C (HYI)	ENSP00000461969.2:n.817+1G>C
XM_005271239.3:c.818G>C (HYI)	XP_005271296.1:p.Cys273Ser
XM_005271240.3:c.716G>C (HYI)	XP_005271297.1:p.Cys239Ser
XM_005271240.5:c.716G>C (HYI)	XP_005271297.1:p.Cys239Ser
XM_006710937.2:c.817+1G>C (HYI)	XP_006711000.1:n.817+1G>C
XM_006710937.3:c.817+1G>C (HYI)	XP_006711000.1:n.817+1G>C
XM_011542222.1:c.715+1G>C (HYI)	XP_011540524.1:n.715+1G>C
XM_011542222.3:c.715+1G>C (HYI)	XP_011540524.1:n.715+1G>C