Canonical Allele Identifier: CA368219429
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94033872T>G (hg19) chr7:g.94404560T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404560T>G , CM000669.2:g.94404560T>G GRCh38
NC_000007.13:g.94033872T>G , CM000669.1:g.94033872T>G GRCh37
NC_000007.12:g.93871808T>G NCBI36
NG_007405.1:g.15000T>G , LRG_2:g.15000T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.284T>G MANE Select ENSP00000297268.6:p.Leu95Ter
ENST00000297268.10:c.284T>G ENSP00000297268.6:p.Leu95Ter
ENST00000620463.1:c.278T>G ENSP00000477719.1:p.Leu93Ter
NM_000089.3:c.284T>G , LRG_2t1:c.284T>G NP_000080.2:p.Leu95Ter
NM_000089.4:c.284T>G MANE Select NP_000080.2:p.Leu95Ter
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