Canonical Allele Identifier: CA639827237

Gene: SREBF2

Linked Data

• dbSNP Id: rs1208437004
• gnomAD v2: 22-42276693-C-T
• gnomAD v3: 22-41880689-C-T
• gnomAD v4: 22-41880689-C-T
• MyVariant Identifiers: chr22:g.42276693C>T (hg19) ; chr22:g.41880689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41880689C>T , CM000684.2:g.41880689C>T	GRCh38
NC_000022.10:g.42276693C>T , CM000684.1:g.42276693C>T	GRCh37
NC_000022.9:g.40606639C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710853.1:c.1672-27C>T	ENSP00000518526.1:n.1672-27C>T
ENST00000361204.9:c.1762-27C>T MANE Select	ENSP00000354476.4:n.1762-27C>T
ENST00000361204.8:c.1762-27C>T	ENSP00000354476.4:n.1762-27C>T
ENST00000424354.5:c.1862-27C>T	ENSP00000395728.1:n.1862-27C>T
ENST00000612482.4:c.1772-27C>T	ENSP00000484441.1:n.1772-27C>T
NM_004599.3:c.1762-27C>T	NP_004590.2:n.1762-27C>T
NR_103834.1:n.2054-27C>T
XM_006724310.1:c.1672-27C>T	XP_006724373.1:n.1672-27C>T
XM_011530347.1:c.1387-27C>T	XP_011528649.1:n.1387-27C>T
XM_006724310.3:c.1672-27C>T	XP_006724373.1:n.1672-27C>T
XM_011530347.2:c.1387-27C>T	XP_011528649.1:n.1387-27C>T
XM_017028921.2:c.1762-27C>T	XP_016884410.1:n.1762-27C>T
XM_017028922.2:c.1762-27C>T	XP_016884411.1:n.1762-27C>T
XR_001755276.2:n.1905-27C>T
XR_001755277.2:n.1905-27C>T
XR_001755278.2:n.2028-27C>T
NM_004599.4:c.1762-27C>T MANE Select	NP_004590.2:n.1762-27C>T
NR_103834.2:n.2028-27C>T