Canonical Allele Identifier: CA4346716
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 265387
ClinVar RCV Id: RCV000255575 RCV000490744 RCV002229832 RCV001526511
dbSNP Id: rs72656370
ExAC: 7:94035598 G / A
gnomAD v2: 7-94035598-G-A
gnomAD v3: 7-94406286-G-A
gnomAD v4: 7-94406286-G-A
MyVariant Identifiers: chr7:g.94035598G>A (hg19) chr7:g.94406286G>A (hg38)
PubMed: PMID:25944380
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94406286G>A , CM000669.2:g.94406286G>A GRCh38
NC_000007.13:g.94035598G>A , CM000669.1:g.94035598G>A GRCh37
NC_000007.12:g.93873534G>A NCBI36
NG_007405.1:g.16726G>A , LRG_2:g.16726G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.577G>A MANE Select ENSP00000297268.6:p.Gly193Ser
ENST00000297268.10:c.577G>A ENSP00000297268.6:p.Gly193Ser
ENST00000620463.1:c.571G>A ENSP00000477719.1:p.Gly191Ser
NM_000089.3:c.577G>A , LRG_2t1:c.577G>A NP_000080.2:p.Gly193Ser
NM_000089.4:c.577G>A MANE Select NP_000080.2:p.Gly193Ser
Search 100 bp 5'
Search 100 bp 3'