Canonical Allele Identifier: CA257759
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17243
ClinVar RCV Id: RCV000018783
dbSNP Id: rs121912903
gnomAD v4: 7-94417796-G-T
MyVariant Identifiers: chr7:g.94047108G>T (hg19) chr7:g.94417796G>T (hg38)
PubMed: PMID:2897363
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417796G>T , CM000669.2:g.94417796G>T GRCh38
NC_000007.13:g.94047108G>T , CM000669.1:g.94047108G>T GRCh37
NC_000007.12:g.93885044G>T NCBI36
NG_007405.1:g.28236G>T , LRG_2:g.28236G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1936G>T MANE Select ENSP00000297268.6:p.Gly646Cys
ENST00000297268.10:c.1936G>T ENSP00000297268.6:p.Gly646Cys
ENST00000461525.5:n.25G>T
ENST00000473573.5:n.273G>T
ENST00000497316.5:n.333G>T
ENST00000620463.1:c.1930G>T ENSP00000477719.1:p.Gly644Cys
NM_000089.3:c.1936G>T , LRG_2t1:c.1936G>T NP_000080.2:p.Gly646Cys
NM_000089.4:c.1936G>T MANE Select NP_000080.2:p.Gly646Cys
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