Canonical Allele Identifier: CA368221227
Community Standard Title: NM_000089.4(COL1A2):c.1136G>A (p.Gly379Glu)
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94410466G>A , CM000669.2:g.94410466G>A GRCh38
NC_000007.13:g.94039778G>A , CM000669.1:g.94039778G>A GRCh37
NC_000007.12:g.93877714G>A NCBI36
NG_007405.1:g.20906G>A , LRG_2:g.20906G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.1136G>A MANE Select NP_000080.2:p.Gly379Glu
ENST00000297268.11:c.1136G>A MANE Select ENSP00000297268.6:p.Gly379Glu
NM_000089.3:c.1136G>A , LRG_2t1:c.1136G>A NP_000080.2:p.Gly379Glu
ENST00000297268.10:c.1136G>A ENSP00000297268.6:p.Gly379Glu
ENST00000620463.1:c.1130G>A ENSP00000477719.1:p.Gly377Glu
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