Canonical Allele Identifier: CA162929069

Gene: COL1A2

Linked Data

• ClinVar Variation Id: 425649
• ClinVar RCV Id: RCV000490730 ; RCV000594712 ; RCV001849383 ; RCV002230966 ; RCV003139688 ; RCV003152709
• dbSNP Id: rs72658143
• gnomAD v4: 7-94416441-G-A
• COSMIC: COSM6190682
• MyVariant Identifiers: chr7:g.94045753G>A (hg19) ; chr7:g.94416441G>A (hg38)
• PubMed: PMID:23891399 ; PMID:25944380

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94416441G>A , CM000669.2:g.94416441G>A	GRCh38
NC_000007.13:g.94045753G>A , CM000669.1:g.94045753G>A	GRCh37
NC_000007.12:g.93883689G>A	NCBI36
NG_007405.1:g.26881G>A , LRG_2:g.26881G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.1801G>A MANE Select	ENSP00000297268.6:p.Gly601Ser
ENST00000297268.10:c.1801G>A	ENSP00000297268.6:p.Gly601Ser
ENST00000473573.5:n.138G>A
ENST00000488298.5:n.225G>A
ENST00000620463.1:c.1795G>A	ENSP00000477719.1:p.Gly599Ser
NM_000089.3:c.1801G>A , LRG_2t1:c.1801G>A	NP_000080.2:p.Gly601Ser
NM_000089.4:c.1801G>A MANE Select	NP_000080.2:p.Gly601Ser