Canonical Allele Identifier: CA324627634
Gene: SREBF2 HGNC NCBI
SHISA8 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.41906460A>G
GRCh37 chr22:g.42302464A>G
gnomAD v2:
22:42302464 A / G
gnomAD v3:
22:41906460 A / G
gnomAD v4:
chr22-41906460-A-G
Joint Max Group AF 0.25888825 (AFR)
Genomes Max Group AF 0.25907607 (AFR)
Exomes Max Group AF 0.13564733 (AFR)
dbSNP:
6002530
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41906460A>G , CM000684.2:g.41906460A>G GRCh38
NC_000022.10:g.42302464A>G , CM000684.1:g.42302464A>G GRCh37
NC_000022.9:g.40632410A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000710853.1:c.*800A>G (SREBF2) ENSP00000518526.1:n.*800A>G
ENST00000361204.9:c.*800A>G (SREBF2) MANE Select ENSP00000354476.4:n.*800A>G
ENST00000361204.8:c.*800A>G (SREBF2) ENSP00000354476.4:n.*800A>G
ENST00000424354.5:c.*2691A>G (SREBF2) ENSP00000395728.1:n.*2691A>G
ENST00000491541.1:n.3197A>G (SREBF2)
ENST00000612482.4:c.*2271A>G (SREBF2) ENSP00000484441.1:n.*2271A>G
NM_004599.3:c.*800A>G (SREBF2) NP_004590.2:n.*800A>G
NR_103834.1:n.4938A>G (SREBF2)
XM_006724310.1:c.*800A>G (SREBF2) XP_006724373.1:n.*800A>G
XM_011530347.1:c.*800A>G (SREBF2) XP_011528649.1:n.*800A>G
XM_006724256.4:c.*3305T>C (SHISA8) XP_006724319.1:n.*3305T>C
XM_006724310.3:c.*800A>G (SREBF2) XP_006724373.1:n.*800A>G
XM_011530347.2:c.*800A>G (SREBF2) XP_011528649.1:n.*800A>G
XR_002958691.1:n.5164T>C (SHISA8)
NM_004599.4:c.*800A>G (SREBF2) MANE Select NP_004590.2:n.*800A>G
NR_103834.2:n.4912A>G (SREBF2)
Search 100 bp 5'
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