Canonical Allele Identifier: CA368224122
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2169524
ClinVar RCV Id: RCV003084870
COSMIC: COSM602682
MyVariant Identifiers: chr7:g.94052404G>A (hg19) chr7:g.94423092G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423092G>A , CM000669.2:g.94423092G>A GRCh38
NC_000007.13:g.94052404G>A , CM000669.1:g.94052404G>A GRCh37
NC_000007.12:g.93890340G>A NCBI36
NG_007405.1:g.33532G>A , LRG_2:g.33532G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2539G>A MANE Select ENSP00000297268.6:p.Gly847Ser
ENST00000297268.10:c.2539G>A ENSP00000297268.6:p.Gly847Ser
ENST00000481570.5:n.622G>A
ENST00000497316.5:n.936G>A
ENST00000620463.1:c.2533G>A ENSP00000477719.1:p.Gly845Ser
NM_000089.3:c.2539G>A , LRG_2t1:c.2539G>A NP_000080.2:p.Gly847Ser
NM_000089.4:c.2539G>A MANE Select NP_000080.2:p.Gly847Ser
Search 100 bp 5'
Search 100 bp 3'