Canonical Allele Identifier: CA2406475106

Gene: SREBF2 SHISA8

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41906460A= , CM000684.2:g.41906460A=	GRCh38
NC_000022.10:g.42302464A= , CM000684.1:g.42302464A=	GRCh37
NC_000022.9:g.40632410A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004599.4:c.*800A= (SREBF2) MANE Select	NP_004590.2:n.*800A=
ENST00000361204.9:c.*800A= (SREBF2) MANE Select	ENSP00000354476.4:n.*800A=
NM_004599.3:c.*800A= (SREBF2)	NP_004590.2:n.*800A=
NR_103834.1:n.4938A= (SREBF2)
NR_103834.2:n.4912A= (SREBF2)
ENST00000361204.8:c.*800A= (SREBF2)	ENSP00000354476.4:n.*800A=
ENST00000424354.5:c.*2691A= (SREBF2)	ENSP00000395728.1:n.*2691A=
ENST00000491541.1:n.3197A= (SREBF2)
ENST00000612482.4:c.*2271A= (SREBF2)	ENSP00000484441.1:n.*2271A=
ENST00000710853.1:c.*800A= (SREBF2)	ENSP00000518526.1:n.*800A=
XM_006724256.4:c.*3305T= (SHISA8)	XP_006724319.1:n.*3305T=
XM_006724310.1:c.*800A= (SREBF2)	XP_006724373.1:n.*800A=
XM_006724310.3:c.*800A= (SREBF2)	XP_006724373.1:n.*800A=
XM_011530347.1:c.*800A= (SREBF2)	XP_011528649.1:n.*800A=
XM_011530347.2:c.*800A= (SREBF2)	XP_011528649.1:n.*800A=
XR_002958691.1:n.5164T= (SHISA8)