Canonical Allele Identifier: CA411760732

Gene: SREBF2

Linked Data

• MyVariant Identifiers: chr22:g.42276746C>T (hg19) ; chr22:g.41880742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41880742C>T , CM000684.2:g.41880742C>T	GRCh38
NC_000022.10:g.42276746C>T , CM000684.1:g.42276746C>T	GRCh37
NC_000022.9:g.40606692C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000710853.1:c.1698C>T	ENSP00000518526.1:p.Asn566=
ENST00000361204.9:c.1788C>T MANE Select	ENSP00000354476.4:p.Asn596=
ENST00000361204.8:c.1788C>T	ENSP00000354476.4:p.Asn596=
ENST00000424354.5:c.1888C>T	ENSP00000395728.1:p.Pro630Ser
ENST00000612482.4:c.1798C>T	ENSP00000484441.1:p.Pro600Ser
NM_004599.3:c.1788C>T	NP_004590.2:p.Asn596=
NR_103834.1:n.2080C>T
XM_006724310.1:c.1698C>T	XP_006724373.1:p.Asn566=
XM_011530347.1:c.1413C>T	XP_011528649.1:p.Asn471=
XM_006724310.3:c.1698C>T	XP_006724373.1:p.Asn566=
XM_011530347.2:c.1413C>T	XP_011528649.1:p.Asn471=
XM_017028921.2:c.1788C>T	XP_016884410.1:p.Asn596=
XM_017028922.2:c.1788C>T	XP_016884411.1:p.Asn596=
XR_001755276.2:n.1931C>T
XR_001755277.2:n.1931C>T
XR_001755278.2:n.2054C>T
NM_004599.4:c.1788C>T MANE Select	NP_004590.2:p.Asn596=
NR_103834.2:n.2054C>T