Canonical Allele Identifier: CA368219626
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94034055A>C (hg19) chr7:g.94404743A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404743A>C , CM000669.2:g.94404743A>C GRCh38
NC_000007.13:g.94034055A>C , CM000669.1:g.94034055A>C GRCh37
NC_000007.12:g.93871991A>C NCBI36
NG_007405.1:g.15183A>C , LRG_2:g.15183A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.375A>C MANE Select ENSP00000297268.6:p.Gln125His
ENST00000297268.10:c.375A>C ENSP00000297268.6:p.Gln125His
ENST00000620463.1:c.369A>C ENSP00000477719.1:p.Gln123His
NM_000089.3:c.375A>C , LRG_2t1:c.375A>C NP_000080.2:p.Gln125His
NM_000089.4:c.375A>C MANE Select NP_000080.2:p.Gln125His
Search 100 bp 5'
Search 100 bp 3'