Canonical Allele Identifier: CA411760775

Gene: SREBF2

Linked Data

• MyVariant Identifiers: chr22:g.42276760T>G (hg19) ; chr22:g.41880756T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41880756T>G , CM000684.2:g.41880756T>G	GRCh38
NC_000022.10:g.42276760T>G , CM000684.1:g.42276760T>G	GRCh37
NC_000022.9:g.40606706T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710853.1:c.1712T>G	ENSP00000518526.1:p.Leu571Arg
ENST00000361204.9:c.1802T>G MANE Select	ENSP00000354476.4:p.Leu601Arg
ENST00000361204.8:c.1802T>G	ENSP00000354476.4:p.Leu601Arg
ENST00000424354.5:c.1902T>G	ENSP00000395728.1:p.Pro634=
ENST00000612482.4:c.1812T>G	ENSP00000484441.1:p.Pro604=
NM_004599.3:c.1802T>G	NP_004590.2:p.Leu601Arg
NR_103834.1:n.2094T>G
XM_006724310.1:c.1712T>G	XP_006724373.1:p.Leu571Arg
XM_011530347.1:c.1427T>G	XP_011528649.1:p.Leu476Arg
XM_006724310.3:c.1712T>G	XP_006724373.1:p.Leu571Arg
XM_011530347.2:c.1427T>G	XP_011528649.1:p.Leu476Arg
XM_017028921.2:c.1802T>G	XP_016884410.1:p.Leu601Arg
XM_017028922.2:c.1802T>G	XP_016884411.1:p.Leu601Arg
XR_001755276.2:n.1945T>G
XR_001755277.2:n.1945T>G
XR_001755278.2:n.2068T>G
NM_004599.4:c.1802T>G MANE Select	NP_004590.2:p.Leu601Arg
NR_103834.2:n.2068T>G