Canonical Allele Identifier: CA368222918
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94417806-G-A
MyVariant Identifiers: chr7:g.94047118G>A (hg19) chr7:g.94417806G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417806G>A , CM000669.2:g.94417806G>A GRCh38
NC_000007.13:g.94047118G>A , CM000669.1:g.94047118G>A GRCh37
NC_000007.12:g.93885054G>A NCBI36
NG_007405.1:g.28246G>A , LRG_2:g.28246G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1946G>A MANE Select ENSP00000297268.6:p.Gly649Asp
ENST00000297268.10:c.1946G>A ENSP00000297268.6:p.Gly649Asp
ENST00000461525.5:n.35G>A
ENST00000473573.5:n.283G>A
ENST00000497316.5:n.343G>A
ENST00000620463.1:c.1940G>A ENSP00000477719.1:p.Gly647Asp
NM_000089.3:c.1946G>A , LRG_2t1:c.1946G>A NP_000080.2:p.Gly649Asp
NM_000089.4:c.1946G>A MANE Select NP_000080.2:p.Gly649Asp
Search 100 bp 5'
Search 100 bp 3'