Canonical Allele Identifier: CA368223946
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94052310A>C (hg19) chr7:g.94422998A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422998A>C , CM000669.2:g.94422998A>C GRCh38
NC_000007.13:g.94052310A>C , CM000669.1:g.94052310A>C GRCh37
NC_000007.12:g.93890246A>C NCBI36
NG_007405.1:g.33438A>C , LRG_2:g.33438A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2445A>C MANE Select ENSP00000297268.6:p.Lys815Asn
ENST00000297268.10:c.2445A>C ENSP00000297268.6:p.Lys815Asn
ENST00000481570.5:n.528A>C
ENST00000497316.5:n.842A>C
ENST00000620463.1:c.2439A>C ENSP00000477719.1:p.Lys813Asn
NM_000089.3:c.2445A>C , LRG_2t1:c.2445A>C NP_000080.2:p.Lys815Asn
NM_000089.4:c.2445A>C MANE Select NP_000080.2:p.Lys815Asn
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