Canonical Allele Identifier: CA4346456

Gene: COL1A2

Linked Data

• ClinVar Variation Id: 360943
• ClinVar RCV Id: RCV000272171 ; RCV000364665 ; RCV000659365 ; RCV003766071
• dbSNP Id: rs765118884
• ExAC: 7:94027078 A / C
• gnomAD v2: 7-94027078-A-C
• gnomAD v3: 7-94397766-A-C
• gnomAD v4: 7-94397766-A-C
• MyVariant Identifiers: chr7:g.94027078A>C (hg19) ; chr7:g.94397766A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94397766A>C , CM000669.2:g.94397766A>C	GRCh38
NC_000007.13:g.94027078A>C , CM000669.1:g.94027078A>C	GRCh37
NC_000007.12:g.93865014A>C	NCBI36
NG_007405.1:g.8206A>C , LRG_2:g.8206A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.81+8A>C MANE Select	ENSP00000297268.6:n.81+8A>C
ENST00000297268.10:c.81+8A>C	ENSP00000297268.6:n.81+8A>C
ENST00000620463.1:c.71-608A>C	ENSP00000477719.1:n.71-608A>C
NM_000089.3:c.81+8A>C , LRG_2t1:c.81+8A>C	NP_000080.2:n.81+8A>C
NM_000089.4:c.81+8A>C MANE Select	NP_000080.2:n.81+8A>C