Canonical Allele Identifier: CA2577735077
Gene: SREBF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41880638A>G , CM000684.2:g.41880638A>G GRCh38
NC_000022.10:g.42276642A>G , CM000684.1:g.42276642A>G GRCh37
NC_000022.9:g.40606588A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000710853.1:c.1672-78A>G ENSP00000518526.1:n.1672-78A>G
ENST00000361204.9:c.1762-78A>G MANE Select ENSP00000354476.4:n.1762-78A>G
ENST00000361204.8:c.1762-78A>G ENSP00000354476.4:n.1762-78A>G
ENST00000424354.5:c.1862-78A>G ENSP00000395728.1:n.1862-78A>G
ENST00000612482.4:c.1772-78A>G ENSP00000484441.1:n.1772-78A>G
NM_004599.3:c.1762-78A>G NP_004590.2:n.1762-78A>G
NR_103834.1:n.2054-78A>G
XM_006724310.1:c.1672-78A>G XP_006724373.1:n.1672-78A>G
XM_011530347.1:c.1387-78A>G XP_011528649.1:n.1387-78A>G
XM_006724310.3:c.1672-78A>G XP_006724373.1:n.1672-78A>G
XM_011530347.2:c.1387-78A>G XP_011528649.1:n.1387-78A>G
XM_017028921.2:c.1762-78A>G XP_016884410.1:n.1762-78A>G
XM_017028922.2:c.1762-78A>G XP_016884411.1:n.1762-78A>G
XR_001755276.2:n.1905-78A>G
XR_001755277.2:n.1905-78A>G
XR_001755278.2:n.2028-78A>G
NM_004599.4:c.1762-78A>G MANE Select NP_004590.2:n.1762-78A>G
NR_103834.2:n.2028-78A>G