Canonical Allele Identifier: CA411765006

Gene: SREBF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41894860C>A , CM000684.2:g.41894860C>A	GRCh38
NC_000022.10:g.42290864C>A , CM000684.1:g.42290864C>A	GRCh37
NC_000022.9:g.40620810C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004599.4:c.2418C>A MANE Select	NP_004590.2:p.Asn806Lys
ENST00000361204.9:c.2418C>A MANE Select	ENSP00000354476.4:p.Asn806Lys
NM_004599.3:c.2418C>A	NP_004590.2:p.Asn806Lys
NR_103834.1:n.2710C>A
NR_103834.2:n.2684C>A
ENST00000361204.8:c.2418C>A	ENSP00000354476.4:p.Asn806Lys
ENST00000424354.5:c.*463C>A	ENSP00000395728.1:n.*463C>A
ENST00000491541.1:n.969C>A
ENST00000612482.4:c.*463C>A	ENSP00000484441.1:n.*463C>A
ENST00000710853.1:c.2328C>A	ENSP00000518526.1:p.Asn776Lys
XM_006724310.1:c.2328C>A	XP_006724373.1:p.Asn776Lys
XM_006724310.3:c.2328C>A	XP_006724373.1:p.Asn776Lys
XM_011530347.1:c.2043C>A	XP_011528649.1:p.Asn681Lys
XM_011530347.2:c.2043C>A	XP_011528649.1:p.Asn681Lys
XM_017028921.2:c.2418C>A	XP_016884410.1:p.Asn806Lys
XR_001755276.2:n.2561C>A
XR_001755278.2:n.2684C>A