Canonical Allele Identifier: CA411760727

Gene: SREBF2

Linked Data

• MyVariant Identifiers: chr22:g.42276744A>T (hg19) ; chr22:g.41880740A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41880740A>T , CM000684.2:g.41880740A>T	GRCh38
NC_000022.10:g.42276744A>T , CM000684.1:g.42276744A>T	GRCh37
NC_000022.9:g.40606690A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000710853.1:c.1696A>T	ENSP00000518526.1:p.Asn566Tyr
ENST00000361204.9:c.1786A>T MANE Select	ENSP00000354476.4:p.Asn596Tyr
ENST00000361204.8:c.1786A>T	ENSP00000354476.4:p.Asn596Tyr
ENST00000424354.5:c.1886A>T	ENSP00000395728.1:p.Gln629Leu
ENST00000612482.4:c.1796A>T	ENSP00000484441.1:p.Gln599Leu
NM_004599.3:c.1786A>T	NP_004590.2:p.Asn596Tyr
NR_103834.1:n.2078A>T
XM_006724310.1:c.1696A>T	XP_006724373.1:p.Asn566Tyr
XM_011530347.1:c.1411A>T	XP_011528649.1:p.Asn471Tyr
XM_006724310.3:c.1696A>T	XP_006724373.1:p.Asn566Tyr
XM_011530347.2:c.1411A>T	XP_011528649.1:p.Asn471Tyr
XM_017028921.2:c.1786A>T	XP_016884410.1:p.Asn596Tyr
XM_017028922.2:c.1786A>T	XP_016884411.1:p.Asn596Tyr
XR_001755276.2:n.1929A>T
XR_001755277.2:n.1929A>T
XR_001755278.2:n.2052A>T
NM_004599.4:c.1786A>T MANE Select	NP_004590.2:p.Asn596Tyr
NR_103834.2:n.2052A>T