Canonical Allele Identifier: CA2819050458

Gene: SREBF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41880669dup , CM000684.2:g.41880669dup	GRCh38
NC_000022.10:g.42276673dup , CM000684.1:g.42276673dup	GRCh37
NC_000022.9:g.40606619dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710853.1:c.1672-47dup	ENSP00000518526.1:n.1672-47dup
ENST00000361204.9:c.1762-47dup MANE Select	ENSP00000354476.4:n.1762-47dup
ENST00000361204.8:c.1762-47dup	ENSP00000354476.4:n.1762-47dup
ENST00000424354.5:c.1862-47dup	ENSP00000395728.1:n.1862-47dup
ENST00000612482.4:c.1772-47dup	ENSP00000484441.1:n.1772-47dup
NM_004599.3:c.1762-47dup	NP_004590.2:n.1762-47dup
NR_103834.1:n.2054-47dup
XM_006724310.1:c.1672-47dup	XP_006724373.1:n.1672-47dup
XM_011530347.1:c.1387-47dup	XP_011528649.1:n.1387-47dup
XM_006724310.3:c.1672-47dup	XP_006724373.1:n.1672-47dup
XM_011530347.2:c.1387-47dup	XP_011528649.1:n.1387-47dup
XM_017028921.2:c.1762-47dup	XP_016884410.1:n.1762-47dup
XM_017028922.2:c.1762-47dup	XP_016884411.1:n.1762-47dup
XR_001755276.2:n.1905-47dup
XR_001755277.2:n.1905-47dup
XR_001755278.2:n.2028-47dup
NM_004599.4:c.1762-47dup MANE Select	NP_004590.2:n.1762-47dup
NR_103834.2:n.2028-47dup