Canonical Allele Identifier: CA368224709
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94054972C>A (hg19) chr7:g.94425660C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94425660C>A , CM000669.2:g.94425660C>A GRCh38
NC_000007.13:g.94054972C>A , CM000669.1:g.94054972C>A GRCh37
NC_000007.12:g.93892908C>A NCBI36
NG_007405.1:g.36100C>A , LRG_2:g.36100C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2832C>A MANE Select ENSP00000297268.6:p.His944Gln
ENST00000297268.10:c.2832C>A ENSP00000297268.6:p.His944Gln
ENST00000469732.1:n.615C>A
ENST00000478215.1:n.391C>A
ENST00000481570.5:n.2805C>A
ENST00000620463.1:c.2826C>A ENSP00000477719.1:p.His942Gln
NM_000089.3:c.2832C>A , LRG_2t1:c.2832C>A NP_000080.2:p.His944Gln
NM_000089.4:c.2832C>A MANE Select NP_000080.2:p.His944Gln
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