Canonical Allele Identifier: CA411760738

Gene: SREBF2

Linked Data

• MyVariant Identifiers: chr22:g.42276748T>G (hg19) ; chr22:g.41880744T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41880744T>G , CM000684.2:g.41880744T>G	GRCh38
NC_000022.10:g.42276748T>G , CM000684.1:g.42276748T>G	GRCh37
NC_000022.9:g.40606694T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000710853.1:c.1700T>G	ENSP00000518526.1:p.Leu567Arg
ENST00000361204.9:c.1790T>G MANE Select	ENSP00000354476.4:p.Leu597Arg
ENST00000361204.8:c.1790T>G	ENSP00000354476.4:p.Leu597Arg
ENST00000424354.5:c.1890T>G	ENSP00000395728.1:p.Pro630=
ENST00000612482.4:c.1800T>G	ENSP00000484441.1:p.Pro600=
NM_004599.3:c.1790T>G	NP_004590.2:p.Leu597Arg
NR_103834.1:n.2082T>G
XM_006724310.1:c.1700T>G	XP_006724373.1:p.Leu567Arg
XM_011530347.1:c.1415T>G	XP_011528649.1:p.Leu472Arg
XM_006724310.3:c.1700T>G	XP_006724373.1:p.Leu567Arg
XM_011530347.2:c.1415T>G	XP_011528649.1:p.Leu472Arg
XM_017028921.2:c.1790T>G	XP_016884410.1:p.Leu597Arg
XM_017028922.2:c.1790T>G	XP_016884411.1:p.Leu597Arg
XR_001755276.2:n.1933T>G
XR_001755277.2:n.1933T>G
XR_001755278.2:n.2056T>G
NM_004599.4:c.1790T>G MANE Select	NP_004590.2:p.Leu597Arg
NR_103834.2:n.2056T>G