Canonical Allele Identifier: CA4347469

Gene: COL1A2

Linked Data

• ClinVar Variation Id: 911922
• ClinVar RCV Id: RCV001164728 ; RCV001164729 ; RCV002451345 ; RCV001561331 ; RCV002240910
• dbSNP Id: rs41317725
• ExAC: 7:94052391 C / T
• gnomAD v2: 7-94052391-C-T
• gnomAD v3: 7-94423079-C-T
• gnomAD v4: 7-94423079-C-T
• COSMIC: COSM127688
• MyVariant Identifiers: chr7:g.94052391C>T (hg19) ; chr7:g.94423079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94423079C>T , CM000669.2:g.94423079C>T	GRCh38
NC_000007.13:g.94052391C>T , CM000669.1:g.94052391C>T	GRCh37
NC_000007.12:g.93890327C>T	NCBI36
NG_007405.1:g.33519C>T , LRG_2:g.33519C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2526C>T MANE Select	ENSP00000297268.6:p.Phe842=
ENST00000297268.10:c.2526C>T	ENSP00000297268.6:p.Phe842=
ENST00000481570.5:n.609C>T
ENST00000497316.5:n.923C>T
ENST00000620463.1:c.2520C>T	ENSP00000477719.1:p.Phe840=
NM_000089.3:c.2526C>T , LRG_2t1:c.2526C>T	NP_000080.2:p.Phe842=
NM_000089.4:c.2526C>T MANE Select	NP_000080.2:p.Phe842=