Canonical Allele Identifier: CA368225079
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94426433G>A
GRCh37 chr7:g.94055745G>A
Revel Score:
ENST00000297268 (MANE Select) 0.985
ENST00000545487 0.985
ClinVar RCV:
RCV000490732
ClinVar Variation:
425655
dbSNP:
1114167414
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426433G>A , CM000669.2:g.94426433G>A GRCh38
NC_000007.13:g.94055745G>A , CM000669.1:g.94055745G>A GRCh37
NC_000007.12:g.93893681G>A NCBI36
NG_007405.1:g.36873G>A , LRG_2:g.36873G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3008G>A MANE Select ENSP00000297268.6:p.Gly1003Asp
ENST00000297268.10:c.3008G>A ENSP00000297268.6:p.Gly1003Asp
ENST00000478215.1:n.567G>A
ENST00000481570.5:n.2981G>A
ENST00000620463.1:c.3002G>A ENSP00000477719.1:p.Gly1001Asp
NM_000089.3:c.3008G>A , LRG_2t1:c.3008G>A NP_000080.2:p.Gly1003Asp
NM_000089.4:c.3008G>A MANE Select NP_000080.2:p.Gly1003Asp
Search 100 bp 5'
Search 100 bp 3'