Canonical Allele Identifier: CA411760760

Gene: SREBF2

Linked Data

• MyVariant Identifiers: chr22:g.42276756T>A (hg19) ; chr22:g.41880752T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41880752T>A , CM000684.2:g.41880752T>A	GRCh38
NC_000022.10:g.42276756T>A , CM000684.1:g.42276756T>A	GRCh37
NC_000022.9:g.40606702T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000710853.1:c.1708T>A	ENSP00000518526.1:p.Cys570Ser
ENST00000361204.9:c.1798T>A MANE Select	ENSP00000354476.4:p.Cys600Ser
ENST00000361204.8:c.1798T>A	ENSP00000354476.4:p.Cys600Ser
ENST00000424354.5:c.1898T>A	ENSP00000395728.1:p.Leu633Gln
ENST00000612482.4:c.1808T>A	ENSP00000484441.1:p.Leu603Gln
NM_004599.3:c.1798T>A	NP_004590.2:p.Cys600Ser
NR_103834.1:n.2090T>A
XM_006724310.1:c.1708T>A	XP_006724373.1:p.Cys570Ser
XM_011530347.1:c.1423T>A	XP_011528649.1:p.Cys475Ser
XM_006724310.3:c.1708T>A	XP_006724373.1:p.Cys570Ser
XM_011530347.2:c.1423T>A	XP_011528649.1:p.Cys475Ser
XM_017028921.2:c.1798T>A	XP_016884410.1:p.Cys600Ser
XM_017028922.2:c.1798T>A	XP_016884411.1:p.Cys600Ser
XR_001755276.2:n.1941T>A
XR_001755277.2:n.1941T>A
XR_001755278.2:n.2064T>A
NM_004599.4:c.1798T>A MANE Select	NP_004590.2:p.Cys600Ser
NR_103834.2:n.2064T>A