Canonical Allele Identifier: CA3564106
Gene: STC2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.173328063C>A
GRCh37 chr5:g.172755066C>A
Revel Score:
ENST00000265087 (MANE Select) 0.611
gnomAD v2:
5:172755066 C / A
gnomAD v3:
5:173328063 C / A
gnomAD v4:
chr5-173328063-C-A
Joint Max Group AF 0.00119752 (NFE)
Genomes Max Group AF 0.00067717 (NFE)
Exomes Max Group AF 0.00121972 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173328063C>A , CM000667.2:g.173328063C>A GRCh38
NC_000005.9:g.172755066C>A , CM000667.1:g.172755066C>A GRCh37
NC_000005.8:g.172687672C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265087.9:c.131G>T MANE Select ENSP00000265087.4:p.Arg44Leu
ENST00000265087.8:c.131G>T ENSP00000265087.4:p.Arg44Leu
ENST00000519511.1:n.385G>T
NM_003714.2:c.131G>T NP_003705.1:p.Arg44Leu
NM_003714.3:c.131G>T MANE Select NP_003705.1:p.Arg44Leu
Search 100 bp 5'
Search 100 bp 3'