Canonical Allele Identifier: CA4346616

Gene: COL1A2

Linked Data

• ClinVar Variation Id: 580339
• ClinVar RCV Id: RCV002232956
• dbSNP Id: rs765868569
• ExAC: 7:94033880 C / T
• gnomAD v2: 7-94033880-C-T
• gnomAD v3: 7-94404568-C-T
• gnomAD v4: 7-94404568-C-T
• MyVariant Identifiers: chr7:g.94033880C>T (hg19) ; chr7:g.94404568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404568C>T , CM000669.2:g.94404568C>T	GRCh38
NC_000007.13:g.94033880C>T , CM000669.1:g.94033880C>T	GRCh37
NC_000007.12:g.93871816C>T	NCBI36
NG_007405.1:g.15008C>T , LRG_2:g.15008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.292C>T MANE Select	ENSP00000297268.6:p.Pro98Ser
ENST00000297268.10:c.292C>T	ENSP00000297268.6:p.Pro98Ser
ENST00000620463.1:c.286C>T	ENSP00000477719.1:p.Pro96Ser
NM_000089.3:c.292C>T , LRG_2t1:c.292C>T	NP_000080.2:p.Pro98Ser
NM_000089.4:c.292C>T MANE Select	NP_000080.2:p.Pro98Ser