Canonical Allele Identifier: CA456488139
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94037530T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94408218T>C , CM000669.2:g.94408218T>C GRCh38
NC_000007.13:g.94037530T>C , CM000669.1:g.94037530T>C GRCh37
NC_000007.12:g.93875466T>C NCBI36
NG_007405.1:g.18658T>C , LRG_2:g.18658T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.675T>C MANE Select ENSP00000297268.6:p.Val225=
ENST00000297268.10:c.675T>C ENSP00000297268.6:p.Val225=
ENST00000620463.1:c.669T>C ENSP00000477719.1:p.Val223=
NM_000089.3:c.675T>C , LRG_2t1:c.675T>C NP_000080.2:p.Val225=
NM_000089.4:c.675T>C MANE Select NP_000080.2:p.Val225=
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