Canonical Allele Identifier: CA10261765

Gene: SREBF2

Linked Data

• dbSNP Id: rs775277844
• ExAC: 22:42276769 T / C
• gnomAD v2: 22-42276769-T-C
• gnomAD v4: 22-41880765-T-C
• MyVariant Identifiers: chr22:g.42276769T>C (hg19) ; chr22:g.41880765T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41880765T>C , CM000684.2:g.41880765T>C	GRCh38
NC_000022.10:g.42276769T>C , CM000684.1:g.42276769T>C	GRCh37
NC_000022.9:g.40606715T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710853.1:c.1721T>C	ENSP00000518526.1:p.Leu574Ser
ENST00000361204.9:c.1811T>C MANE Select	ENSP00000354476.4:p.Leu604Ser
ENST00000361204.8:c.1811T>C	ENSP00000354476.4:p.Leu604Ser
ENST00000424354.5:c.1911T>C	ENSP00000395728.1:p.Phe637=
ENST00000612482.4:c.1821T>C	ENSP00000484441.1:p.Phe607=
NM_004599.3:c.1811T>C	NP_004590.2:p.Leu604Ser
NR_103834.1:n.2103T>C
XM_006724310.1:c.1721T>C	XP_006724373.1:p.Leu574Ser
XM_011530347.1:c.1436T>C	XP_011528649.1:p.Leu479Ser
XM_006724310.3:c.1721T>C	XP_006724373.1:p.Leu574Ser
XM_011530347.2:c.1436T>C	XP_011528649.1:p.Leu479Ser
XM_017028921.2:c.1811T>C	XP_016884410.1:p.Leu604Ser
XM_017028922.2:c.1811T>C	XP_016884411.1:p.Leu604Ser
XR_001755276.2:n.1954T>C
XR_001755277.2:n.1954T>C
XR_001755278.2:n.2077T>C
NM_004599.4:c.1811T>C MANE Select	NP_004590.2:p.Leu604Ser
NR_103834.2:n.2077T>C