Canonical Allele Identifier: CA368222919
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94047118G>T (hg19) chr7:g.94417806G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1946G>T MANE Select ENSP00000297268.6:p.Gly649Val
ENST00000297268.10:c.1946G>T ENSP00000297268.6:p.Gly649Val
ENST00000461525.5:n.35G>T
ENST00000473573.5:n.283G>T
ENST00000497316.5:n.343G>T
ENST00000620463.1:c.1940G>T ENSP00000477719.1:p.Gly647Val
NM_000089.3:c.1946G>T , LRG_2t1:c.1946G>T NP_000080.2:p.Gly649Val
NM_000089.4:c.1946G>T MANE Select NP_000080.2:p.Gly649Val
Search 100 bp 5'
Search 100 bp 3'