Canonical Allele Identifier: CA368220295
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94037534G>C (hg19) chr7:g.94408222G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94408222G>C , CM000669.2:g.94408222G>C GRCh38
NC_000007.13:g.94037534G>C , CM000669.1:g.94037534G>C GRCh37
NC_000007.12:g.93875470G>C NCBI36
NG_007405.1:g.18662G>C , LRG_2:g.18662G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.679G>C MANE Select ENSP00000297268.6:p.Ala227Pro
ENST00000297268.10:c.679G>C ENSP00000297268.6:p.Ala227Pro
ENST00000620463.1:c.673G>C ENSP00000477719.1:p.Ala225Pro
NM_000089.3:c.679G>C , LRG_2t1:c.679G>C NP_000080.2:p.Ala227Pro
NM_000089.4:c.679G>C MANE Select NP_000080.2:p.Ala227Pro
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