Canonical Allele Identifier: CA162937261
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94421936G>C
GRCh37 chr7:g.94051248G>C
Revel Score:
ENST00000297268 (MANE Select) 0.987
ENST00000545487 0.987
ClinVar RCV:
RCV000519428
RCV002231208
ClinVar Variation:
449351
dbSNP:
72658189
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94421936G>C , CM000669.2:g.94421936G>C GRCh38
NC_000007.13:g.94051248G>C , CM000669.1:g.94051248G>C GRCh37
NC_000007.12:g.93889184G>C NCBI36
NG_007405.1:g.32376G>C , LRG_2:g.32376G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2387G>C MANE Select ENSP00000297268.6:p.Gly796Ala
ENST00000297268.10:c.2387G>C ENSP00000297268.6:p.Gly796Ala
ENST00000473573.5:n.724G>C
ENST00000497316.5:n.784G>C
ENST00000620463.1:c.2381G>C ENSP00000477719.1:p.Gly794Ala
NM_000089.3:c.2387G>C , LRG_2t1:c.2387G>C NP_000080.2:p.Gly796Ala
NM_000089.4:c.2387G>C MANE Select NP_000080.2:p.Gly796Ala
Search 100 bp 5'
Search 100 bp 3'