Canonical Allele Identifier: CA260345
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94417733G>A
GRCh37 chr7:g.94047045G>A
Revel Score:
ENST00000297268 (MANE Select) 0.978
ENST00000545487 0.978
ClinVar Allele:
44602
ClinVar RCV:
RCV000029594
ClinVar Variation:
35938
dbSNP:
193922162
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417733G>A , CM000669.2:g.94417733G>A GRCh38
NC_000007.13:g.94047045G>A , CM000669.1:g.94047045G>A GRCh37
NC_000007.12:g.93884981G>A NCBI36
NG_007405.1:g.28173G>A , LRG_2:g.28173G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.1873G>A MANE Select ENSP00000297268.6:p.Gly625Ser
ENST00000297268.10:c.1873G>A ENSP00000297268.6:p.Gly625Ser
ENST00000473573.5:n.210G>A
ENST00000497316.5:n.270G>A
ENST00000620463.1:c.1867G>A ENSP00000477719.1:p.Gly623Ser
NM_000089.3:c.1873G>A , LRG_2t1:c.1873G>A NP_000080.2:p.Gly625Ser
NM_000089.4:c.1873G>A MANE Select NP_000080.2:p.Gly625Ser
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