Canonical Allele Identifier: CA370662581
Community Standard Title: NM_007175.8(ERLIN2):c.877A>G (p.Ser293Gly)
Gene: ERLIN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37753972A>G , CM000670.2:g.37753972A>G GRCh38
NC_000008.10:g.37611490A>G , CM000670.1:g.37611490A>G GRCh37
NC_000008.9:g.37730648A>G NCBI36
NG_032059.1:g.22394A>G

Transcript Alleles

HGVS Amino-acid Change
NM_007175.8:c.877A>G MANE Select NP_009106.1:p.Ser293Gly
ENST00000519638.3:c.877A>G MANE Select ENSP00000428112.1:p.Ser293Gly
NM_001362878.1:c.877A>G NP_001349807.1:p.Ser293Gly
NM_001362878.2:c.877A>G NP_001349807.1:p.Ser293Gly
NM_007175.6:c.877A>G NP_009106.1:p.Ser293Gly
NM_007175.7:c.877A>G NP_009106.1:p.Ser293Gly
ENST00000276461.9:c.877A>G ENSP00000276461.5:p.Ser293Gly
ENST00000519638.1:c.877A>G ENSP00000428112.1:p.Ser293Gly
ENST00000521644.5:c.877A>G ENSP00000429621.1:p.Ser293Gly
XM_005273392.1:c.877A>G XP_005273449.1:p.Ser293Gly
XM_005273392.3:c.877A>G XP_005273449.1:p.Ser293Gly
XM_006716280.1:c.631A>G XP_006716343.1:p.Ser211Gly
XM_006716280.2:c.631A>G XP_006716343.1:p.Ser211Gly
XM_024447058.1:c.877A>G XP_024302826.1:p.Ser293Gly