Canonical Allele Identifier: CA3564106
Community Standard Title: NM_003714.3(STC2):c.131G>T (p.Arg44Leu)
Gene: STC2 HGNC NCBI
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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
NM_003714.3:c.131G>T MANE Select NP_003705.1:p.Arg44Leu
ENST00000265087.9:c.131G>T MANE Select ENSP00000265087.4:p.Arg44Leu
NM_003714.2:c.131G>T NP_003705.1:p.Arg44Leu
ENST00000265087.8:c.131G>T ENSP00000265087.4:p.Arg44Leu
ENST00000519511.1:n.385G>T
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