Canonical Allele Identifier: CA514798411

Gene: SREBF2

Linked Data

• MyVariant Identifiers: chr22:g.42276755C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41880751C>T , CM000684.2:g.41880751C>T	GRCh38
NC_000022.10:g.42276755C>T , CM000684.1:g.42276755C>T	GRCh37
NC_000022.9:g.40606701C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000710853.1:c.1707C>T	ENSP00000518526.1:p.Thr569=
ENST00000361204.9:c.1797C>T MANE Select	ENSP00000354476.4:p.Thr599=
ENST00000361204.8:c.1797C>T	ENSP00000354476.4:p.Thr599=
ENST00000424354.5:c.1897C>T	ENSP00000395728.1:p.Leu633=
ENST00000612482.4:c.1807C>T	ENSP00000484441.1:p.Leu603=
NM_004599.3:c.1797C>T	NP_004590.2:p.Thr599=
NR_103834.1:n.2089C>T
XM_006724310.1:c.1707C>T	XP_006724373.1:p.Thr569=
XM_011530347.1:c.1422C>T	XP_011528649.1:p.Thr474=
XM_006724310.3:c.1707C>T	XP_006724373.1:p.Thr569=
XM_011530347.2:c.1422C>T	XP_011528649.1:p.Thr474=
XM_017028921.2:c.1797C>T	XP_016884410.1:p.Thr599=
XM_017028922.2:c.1797C>T	XP_016884411.1:p.Thr599=
XR_001755276.2:n.1940C>T
XR_001755277.2:n.1940C>T
XR_001755278.2:n.2063C>T
NM_004599.4:c.1797C>T MANE Select	NP_004590.2:p.Thr599=
NR_103834.2:n.2063C>T