Canonical Allele Identifier: CA2406462529

Gene: SREBF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41880760A= , CM000684.2:g.41880760A=	GRCh38
NC_000022.10:g.42276764A= , CM000684.1:g.42276764A=	GRCh37
NC_000022.9:g.40606710A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710853.1:c.1716A=	ENSP00000518526.1:p.Ala572=
ENST00000361204.9:c.1806A= MANE Select	ENSP00000354476.4:p.Ala602=
ENST00000361204.8:c.1806A=	ENSP00000354476.4:p.Ala602=
ENST00000424354.5:c.1906A=	ENSP00000395728.1:p.Ser636=
ENST00000612482.4:c.1816A=	ENSP00000484441.1:p.Ser606=
NM_004599.3:c.1806A=	NP_004590.2:p.Ala602=
NR_103834.1:n.2098A=
XM_006724310.1:c.1716A=	XP_006724373.1:p.Ala572=
XM_011530347.1:c.1431A=	XP_011528649.1:p.Ala477=
XM_006724310.3:c.1716A=	XP_006724373.1:p.Ala572=
XM_011530347.2:c.1431A=	XP_011528649.1:p.Ala477=
XM_017028921.2:c.1806A=	XP_016884410.1:p.Ala602=
XM_017028922.2:c.1806A=	XP_016884411.1:p.Ala602=
XR_001755276.2:n.1949A=
XR_001755277.2:n.1949A=
XR_001755278.2:n.2072A=
NM_004599.4:c.1806A= MANE Select	NP_004590.2:p.Ala602=
NR_103834.2:n.2072A=