Canonical Allele Identifier: CA2406462524

Gene: SREBF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41880738G= , CM000684.2:g.41880738G=	GRCh38
NC_000022.10:g.42276742G= , CM000684.1:g.42276742G=	GRCh37
NC_000022.9:g.40606688G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004599.4:c.1784G= MANE Select	NP_004590.2:p.Gly595=
ENST00000361204.9:c.1784G= MANE Select	ENSP00000354476.4:p.Gly595=
NM_004599.3:c.1784G=	NP_004590.2:p.Gly595=
NR_103834.1:n.2076G=
NR_103834.2:n.2050G=
ENST00000361204.8:c.1784G=	ENSP00000354476.4:p.Gly595=
ENST00000424354.5:c.1884G=	ENSP00000395728.1:p.Arg628=
ENST00000612482.4:c.1794G=	ENSP00000484441.1:p.Arg598=
ENST00000710853.1:c.1694G=	ENSP00000518526.1:p.Gly565=
XM_006724310.1:c.1694G=	XP_006724373.1:p.Gly565=
XM_006724310.3:c.1694G=	XP_006724373.1:p.Gly565=
XM_011530347.1:c.1409G=	XP_011528649.1:p.Gly470=
XM_011530347.2:c.1409G=	XP_011528649.1:p.Gly470=
XM_017028921.2:c.1784G=	XP_016884410.1:p.Gly595=
XM_017028922.2:c.1784G=	XP_016884411.1:p.Gly595=
XR_001755276.2:n.1927G=
XR_001755277.2:n.1927G=
XR_001755278.2:n.2050G=