Canonical Allele Identifier: CA10261760
Gene: SREBF2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2228314

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41880738G>C , CM000684.2:g.41880738G>C GRCh38
NC_000022.10:g.42276742G>C , CM000684.1:g.42276742G>C GRCh37
NC_000022.9:g.40606688G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_004599.3:c.1784G>C VV NP_004590.2:p.Gly595Ala
NR_103834.1:n.2076G>C
XM_006724310.1:c.1694G>C XP_006724373.1:p.Gly565Ala
XM_011530347.1:c.1409G>C XP_011528649.1:p.Gly470Ala
XM_006724310.3:c.1694G>C XP_006724373.1:p.Gly565Ala
XM_011530347.2:c.1409G>C XP_011528649.1:p.Gly470Ala
XM_017028921.2:c.1784G>C XP_016884410.1:p.Gly595Ala
XM_017028922.2:c.1784G>C XP_016884411.1:p.Gly595Ala
XR_001755276.2:n.1927G>C
XR_001755277.2:n.1927G>C
XR_001755278.2:n.2050G>C
NM_004599.4:c.1784G>C VV MANE Preferred NP_004590.2:p.Gly595Ala
ENST00000361204.8:c.1784G>C ENSP00000354476.4:p.Gly595Ala
ENST00000424354.5:c.1884G>C ENSP00000395728.1:p.Arg628=
ENST00000612482.4:c.1794G>C ENSP00000484441.1:p.Arg598=