Canonical Allele Identifier: CA368219661
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94034158C>A (hg19) chr7:g.94404846C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404846C>A , CM000669.2:g.94404846C>A GRCh38
NC_000007.13:g.94034158C>A , CM000669.1:g.94034158C>A GRCh37
NC_000007.12:g.93872094C>A NCBI36
NG_007405.1:g.15286C>A , LRG_2:g.15286C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.386C>A MANE Select ENSP00000297268.6:p.Ala129Glu
ENST00000297268.10:c.386C>A ENSP00000297268.6:p.Ala129Glu
ENST00000620463.1:c.380C>A ENSP00000477719.1:p.Ala127Glu
NM_000089.3:c.386C>A , LRG_2t1:c.386C>A NP_000080.2:p.Ala129Glu
NM_000089.4:c.386C>A MANE Select NP_000080.2:p.Ala129Glu
Search 100 bp 5'
Search 100 bp 3'