Canonical Allele Identifier: CA5191104

Gene: HSDL2 HSDL2-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.112454063C>T , CM000671.2:g.112454063C>T	GRCh38
NC_000009.11:g.115216343C>T , CM000671.1:g.115216343C>T	GRCh37
NC_000009.10:g.114256164C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032303.5:c.916C>T (HSDL2) MANE Select	NP_115679.2:p.Arg306Cys
ENST00000398805.8:c.916C>T (HSDL2) MANE Select	ENSP00000381785.3:p.Arg306Cys
NM_001195822.1:c.697C>T (HSDL2)	NP_001182751.1:p.Arg233Cys
NM_001195822.2:c.697C>T (HSDL2)	NP_001182751.1:p.Arg233Cys
NM_001350649.1:c.393G>A (HSDL2-AS1)	NP_001337578.1:p.Thr131=
NM_001350649.2:c.393G>A (HSDL2-AS1)	NP_001337578.1:p.Thr131=
NM_032303.4:c.916C>T (HSDL2)	NP_115679.2:p.Arg306Cys
NR_036651.1:n.1007C>T (HSDL2)
NR_036651.2:n.808C>T (HSDL2)
NR_171777.1:n.481G>A (HSDL2-AS1)
NR_171778.1:n.596G>A (HSDL2-AS1)
NR_171779.1:n.1082G>A (HSDL2-AS1)
ENST00000398803.1:c.697C>T (HSDL2)	ENSP00000381783.1:p.Arg233Cys
ENST00000398805.7:c.916C>T (HSDL2)	ENSP00000381785.3:p.Arg306Cys
ENST00000467434.5:n.690C>T (HSDL2)
ENST00000488101.5:n.812C>T (HSDL2)
XM_006717303.2:c.394C>T (HSDL2)	XP_006717366.1:p.Arg132Cys
XM_017015203.2:c.394C>T (HSDL2)	XP_016870692.1:p.Arg132Cys
XM_017015204.2:c.394C>T (HSDL2)	XP_016870693.1:p.Arg132Cys
XM_017015205.2:c.394C>T (HSDL2)	XP_016870694.1:p.Arg132Cys