Allele Registry

Canonical Allele Identifier: CA15998577

Gene: SREBF2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr22:g.41891450A>G

GRCh37 chr22:g.42287454A>G

Linked Data - Sequence & Population

gnomAD v2:

22:42287454 A / G

gnomAD v3:

22:41891450 A / G

gnomAD v4:

chr22-41891450-A-G

Joint Max Group AF 0.76302854 (AFR)

Genomes Max Group AF 0.76302854 (AFR)

Exomes Max Group AF 0.227719 (NFE)

Linked Data - NCBI & NCI

dbSNP:

2267443

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41891450A>G , CM000684.2:g.41891450A>G	GRCh38
NC_000022.10:g.42287454A>G , CM000684.1:g.42287454A>G	GRCh37
NC_000022.9:g.40617400A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710853.1:c.2119-1667A>G	ENSP00000518526.1:n.2119-1667A>G
ENST00000361204.9:c.2209-1667A>G MANE Select	ENSP00000354476.4:n.2209-1667A>G
ENST00000361204.8:c.2209-1667A>G	ENSP00000354476.4:n.2209-1667A>G
ENST00000424354.5:c.*254-1667A>G	ENSP00000395728.1:n.*254-1667A>G
ENST00000491541.1:n.759+51A>G
ENST00000612482.4:c.*254-1667A>G	ENSP00000484441.1:n.*254-1667A>G
NM_004599.3:c.2209-1667A>G	NP_004590.2:n.2209-1667A>G
NR_103834.1:n.2501-1667A>G
XM_006724310.1:c.2119-1667A>G	XP_006724373.1:n.2119-1667A>G
XM_011530347.1:c.1834-1667A>G	XP_011528649.1:n.1834-1667A>G
XR_938277.1:n.1563A>G
XM_006724310.3:c.2119-1667A>G	XP_006724373.1:n.2119-1667A>G
XM_011530347.2:c.1834-1667A>G	XP_011528649.1:n.1834-1667A>G
XM_017028921.2:c.2209-1667A>G	XP_016884410.1:n.2209-1667A>G
XR_001755276.2:n.2352-1667A>G
XR_001755278.2:n.2475-1667A>G
NM_004599.4:c.2209-1667A>G MANE Select	NP_004590.2:n.2209-1667A>G
NR_103834.2:n.2475-1667A>G

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