Canonical Allele Identifier: CA2580078016
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2018661
ClinVar RCV Id: RCV002862152
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94415278T>C , CM000669.2:g.94415278T>C GRCh38
NC_000007.13:g.94044590T>C , CM000669.1:g.94044590T>C GRCh37
NC_000007.12:g.93882526T>C NCBI36
NG_007405.1:g.25718T>C , LRG_2:g.25718T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1764+8T>C MANE Select ENSP00000297268.6:n.1764+8T>C
ENST00000297268.10:c.1764+8T>C ENSP00000297268.6:n.1764+8T>C
ENST00000473573.5:n.101+8T>C
ENST00000488298.5:n.188+8T>C
ENST00000620463.1:c.1758+8T>C ENSP00000477719.1:n.1758+8T>C
NM_000089.3:c.1764+8T>C , LRG_2t1:c.1764+8T>C NP_000080.2:n.1764+8T>C
NM_000089.4:c.1764+8T>C MANE Select NP_000080.2:n.1764+8T>C
Search 100 bp 5'
Search 100 bp 3'