Canonical Allele Identifier: CA2406462463
Gene: SREBF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41880591T= , CM000684.2:g.41880591T= GRCh38
NC_000022.10:g.42276595T= , CM000684.1:g.42276595T= GRCh37
NC_000022.9:g.40606541T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000710853.1:c.1672-125T= ENSP00000518526.1:n.1672-125T=
ENST00000361204.9:c.1762-125T= MANE Select ENSP00000354476.4:n.1762-125T=
ENST00000361204.8:c.1762-125T= ENSP00000354476.4:n.1762-125T=
ENST00000424354.5:c.1862-125T= ENSP00000395728.1:n.1862-125T=
ENST00000612482.4:c.1772-125T= ENSP00000484441.1:n.1772-125T=
NM_004599.3:c.1762-125T= NP_004590.2:n.1762-125T=
NR_103834.1:n.2054-125T=
XM_006724310.1:c.1672-125T= XP_006724373.1:n.1672-125T=
XM_011530347.1:c.1387-125T= XP_011528649.1:n.1387-125T=
XM_006724310.3:c.1672-125T= XP_006724373.1:n.1672-125T=
XM_011530347.2:c.1387-125T= XP_011528649.1:n.1387-125T=
XM_017028921.2:c.1762-125T= XP_016884410.1:n.1762-125T=
XM_017028922.2:c.1762-125T= XP_016884411.1:n.1762-125T=
XR_001755276.2:n.1905-125T=
XR_001755277.2:n.1905-125T=
XR_001755278.2:n.2028-125T=
NM_004599.4:c.1762-125T= MANE Select NP_004590.2:n.1762-125T=
NR_103834.2:n.2028-125T=